PARVG

Chr 22

parvin gamma

NCBI Gene: 64098 ENSG00000138964 UniProt: Q9HBI0 OMIM: 608122

PARVG encodes an actin-binding protein that promotes cell adhesion and spreading of leukocytes through interaction with integrin-linked kinase (ILK) at focal contacts. The gene shows minimal constraint against loss-of-function variants (pLI ~0, LOEUF 0.896), suggesting tolerance to such mutations. No well-established disease associations have been reported for PARVG mutations.

OMIM ResearchSummary from RefSeq, UniProt

Members of the parvin family, including PARVG, are actin-binding proteins associated with focal contacts.[supplied by OMIM, Aug 2004]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.90

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.90LOEUF

pLI 0.000

Z-score 1.91

OE 0.54 (0.34–0.90)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.28Z-score

OE missense 0.94 (0.83–1.07)

179 obs / 189.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.54 (0.34–0.90)

0≤0.351.4

Missense OE?0.94 (0.83–1.07)

0≤0.61.4

Synonymous OE?0.99

0≤1.21.6

LoF obs/exp: 11 / 20.3Missense obs/exp: 179 / 189.9Syn Z: 0.08

Background carrier burden — how many people carry a rare variant somewhere in PARVG?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

435 rare PASS variants

Rare truncating (LoF)

1 in 590

86 rare PASS variants

Rare synonymous (reference)

1 in 260

181 rare PASS variants

Rare missense and truncating variants are carried at similar rates in PARVG; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 170	1 in 1,200
South Asian	~43k	1 in 130	1 in 1,300
Remaining (unassigned)	~30k	1 in 79	1 in 1,300
European (Finnish)	~27k	1 in 480	1 in 3,300
Admixed American	~22k	1 in 76	1 in 510
African / African American	~21k	1 in 81	1 in 1,200
East Asian	~20k	1 in 160	1 in 1,400
Ashkenazi Jewish	~13k	1 in 220	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 140	1 in 480

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 12 coding exons well covered in gnomAD exomes and genomes.? see exons ↓