ANKRD30A

Chr 10

ankyrin repeat domain 30A

Also known as: NY-BR-1

NCBI Gene: 91074 ENSG00000148513 UniProt: Q9BXX3 OMIM: 610856

This gene encodes a DNA-binding transcription factor that is uniquely expressed in mammary epithelium and testis. The gene shows very low constraint against loss-of-function variants (pLI near zero), and no pediatric neurological disorders have been definitively associated with ANKRD30A mutations to date. Current evidence suggests this gene may be primarily relevant to breast cancer rather than neurogenetic conditions.

OMIM ResearchSummary from RefSeq

This gene encodes a DNA-binding transcription factor that is uniquely expressed in mammary epithelium and the testis. Altered expression levels have been associated with breast cancer progression. [provided by RefSeq, Nov 2016]

OMIM ResearchGenerating clinical summary…

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: Service overloaded

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in ANKRD30A?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 24

1,809 rare PASS variants

Rare truncating (LoF)

1 in 230

348 rare PASS variants

Rare synonymous (reference)

1 in 88

618 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ANKRD30A. 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 38	1 in 280
South Asian	~43k	1 in 19	1 in 81
Remaining (unassigned)	~30k	1 in 20	1 in 190
European (Finnish)	~27k	1 in 77	1 in 1,700
Admixed American	~22k	1 in 25	1 in 130
African / African American	~21k	1 in 22	1 in 170
East Asian	~20k	1 in 30	1 in 270
Ashkenazi Jewish	~13k	1 in 82	1 in 450
Middle Eastern	~2,884	1 in 25	1 in 100

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 20 of 35 coding exons well covered in gnomAD exomes; exons 6, 20, 21, 22, 23, 24 poorly covered; exons 1, 2, 4, 8, 9 and 4 more marginal. Genomes: 29 of 35 (exons 20, 21, 22, 23, 24, 25 below).? see exons ↓