ANKRD30A

protein-coding

ankyrin repeat domain 30A, the group of Ankyrin repeat domain containing

Gene summary

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]

MANE transcript

NM_052997.3

Inheritance

—

ClinVar variants

U:177B:18

Top phenotype

Familial cancer of breast

gnomAD constraint

pLI —, LoF o/e 1.03

Max pathogenic AF

—

Genomic locus

chr10:37,125,598-37,232,567

External References & Databases

Ensembl (ENSG00000148513)

Transcript & Mutation Effects

hg38 • Region Span ~107.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ANKRD30A variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 181

not providedTotal: 8

Familial cancer of breastTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_052997.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	2 clinvar		3
missense			173 clinvar	15 clinvar	1 clinvar	189
nonsense			1 clinvar			1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	177	17	1	195

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 12 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_052997.3	RefSeq	NP_443723.3	35	MANE Select
ENST00000361713.2	Ensembl	ENSP00000354432.2	35	MANE Select
ENST00000374660.7	Ensembl	ENSP00000363792.2	41	Standard
ENST00000374660.8	Ensembl	ENSP00000363792.2	41	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of transcription, DNA-templated

Molecular Function

DNA binding
DNA-binding transcription factor activity

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000361713
Coding exons: 35
Length: 258255
Individuals with no LoFs: 123702
Homozygous LoFs: 6
Heterozygous LoFs: 1101
Defined: 124809
p: 0.00444

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-2.83	778	586	1.33	0.0000279	8835
Missense (PolyPhen)		75	53.253	1.4084		804
Synonymous	-2.27	247	206	1.20	0.0000111	2250
Loss of Function	-0.231	67	65.0	1.03	0.00000283	1052

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0016	0.0015	notable
Latino/Admixed American	0.0021	0.0021	notable
Ashkenazi Jewish	0.00070	0.00070	rare
East Asian	0.00057	0.00050	rare
Finnish	0.0038	0.0038	notable
European (Non-Finnish)	0.0067	0.0066	notable
South Asian	0.0048	0.0045	notable
Other	0.0055	0.0051	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.991
RVIS EVS: 2.7
RVIS percentile EVS: 98.9

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.0175

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	Medium	Medium	Medium