SH2D7

Chr 15

SH2 domain containing 7

NCBI Gene: 646892 ENSG00000183476 UniProt: A6NKC9

Predicted to enable protein-macromolecule adaptor activity. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

Research

Predicted to enable protein-macromolecule adaptor activity. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.19

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.19LOEUF

pLI 0.000

Z-score 0.94

OE 0.76 (0.50–1.19)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.10Z-score

OE missense 0.98 (0.88–1.09)

243 obs / 247.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.76 (0.50–1.19)

0≤0.351.4

Missense OE?0.98 (0.88–1.09)

0≤0.61.4

Synonymous OE?0.95

0≤1.21.6

LoF obs/exp: 14 / 18.3Missense obs/exp: 243 / 247.5Syn Z: 0.41

Background carrier burden — how many people carry a rare variant somewhere in SH2D7?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 86

600 rare PASS variants

Rare truncating (LoF)

1 in 1,100

104 rare PASS variants

Rare synonymous (reference)

1 in 270

208 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SH2D7. 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 150	1 in 1,500
South Asian	~43k	1 in 78	1 in 430
Remaining (unassigned)	~30k	1 in 100	1 in 1,000
European (Finnish)	~27k	1 in 320	none seen
Admixed American	~22k	1 in 70	1 in 590
African / African American	~21k	1 in 72	1 in 1,300
East Asian	~20k	1 in 97	1 in 890
Ashkenazi Jewish	~13k	1 in 490	none seen
Middle Eastern	~2,884	1 in 87	≈ 1 in 1,400

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 6 coding exons well covered in gnomAD exomes and genomes.? see exons ↓