rs847851

Positions:

• chr6-34936807-G-A
• chr6-34936807-G-C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_015245.3(ANKS1A):​c.198-30432G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.462 in 152,062 control chromosomes in the GnomAD database, including 21,510 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.46 (21510 hom., cov: 32)
• Consequence: ANKS1A NM_015245.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0560

Genes affected

ANKS1A (HGNC:20961): (ankyrin repeat and sterile alpha motif domain containing 1A) Predicted to enable ephrin receptor binding activity. Predicted to be involved in ephrin receptor signaling pathway; neuron remodeling; and substrate-dependent cell migration. Predicted to act upstream of or within negative regulation of ubiquitin-dependent protein catabolic process and regulation of ephrin receptor signaling pathway. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.844 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
ANKS1A	NM_015245.3	c.198-30432G>A		intron_variant		ENST00000360359.5	NP_056060.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
ANKS1A	ENST00000360359.5	c.198-30432G>A		intron_variant		1	NM_015245.3	ENSP00000353518
ANKS1A	ENST00000649117.1	c.198-30432G>A		intron_variant				ENSP00000497393	P1
ANKS1A	ENST00000650178.1	c.198-30432G>A		intron_variant				ENSP00000497939

Frequencies

GnomAD3 genomes AF: 0.462 AC: 70199 AN: 151944 Hom.: 21449 Cov.: 32

Gnomad AFR AF: 0.851

Gnomad AMI AF: 0.0659

Gnomad AMR AF: 0.392

Gnomad ASJ AF: 0.469

Gnomad EAS AF: 0.703

Gnomad SAS AF: 0.415

Gnomad FIN AF: 0.213

Gnomad MID AF: 0.446

Gnomad NFE AF: 0.268

Gnomad OTH AF: 0.492

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.462 AC: 70306 AN: 152062 Hom.: 21510 Cov.: 32 AF XY: 0.461 AC XY: 34248 AN XY: 74318

Gnomad4 AFR AF: 0.852

Gnomad4 AMR AF: 0.392

Gnomad4 ASJ AF: 0.469

Gnomad4 EAS AF: 0.702

Gnomad4 SAS AF: 0.415

Gnomad4 FIN AF: 0.213

Gnomad4 NFE AF: 0.268

Gnomad4 OTH AF: 0.491

Alfa AF: 0.319 Hom.: 18185

Bravo AF: 0.496

Asia WGS AF: 0.546 AC: 1897 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	1.5
DANN	Benign	0.28

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs847851; hg19: chr6-34904584;