rs636341

Variant names:

• chr11-60251688-A-C
• rs636341
• ENST00000649552.2:c.60-40537A>C

Your query was ambiguous. Multiple possible variants found:

• chr11-60251688-A-C
• chr11-60251688-A-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000649552.2(MS4A4A):​c.60-40537A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.67 in 152,098 control chromosomes in the GnomAD database, including 35,093 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 0.67 (35093 hom., cov: 32)
• Consequence: MS4A4A ENST00000649552.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.78
• Publications: 6 publications found

Genes affected

MS4A4A (HGNC:13371): (membrane spanning 4-domains A4A) This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features, similar intron/exon splice boundaries, and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.824 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
MS4A4A	ENST00000649552.2	c.60-40537A>C		intron_variant	Intron 2 of 7			ENSP00000497952.2
MS4A4A	ENST00000679553.1	c.60-40537A>C		intron_variant	Intron 1 of 6			ENSP00000505712.1
MS4A4A	ENST00000681288.1	c.60-40537A>C		intron_variant	Intron 2 of 7			ENSP00000505714.1

Frequencies

GnomAD3 genomes AF: 0.670 AC: 101828 AN: 151980 Hom.: 35051 Cov.: 32

Gnomad AFR AF: 0.831

Gnomad AMI AF: 0.653

Gnomad AMR AF: 0.602

Gnomad ASJ AF: 0.614

Gnomad EAS AF: 0.677

Gnomad SAS AF: 0.496

Gnomad FIN AF: 0.731

Gnomad MID AF: 0.547

Gnomad NFE AF: 0.595

Gnomad OTH AF: 0.619

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

GnomAD4 genome AF: 0.670 AC: 101927 AN: 152098 Hom.: 35093 Cov.: 32 AF XY: 0.671 AC XY: 49850 AN XY: 74332

African (AFR) AF: 0.831 AC: 34479 AN: 41486

American (AMR) AF: 0.603 AC: 9212 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.614 AC: 2131 AN: 3470

East Asian (EAS) AF: 0.677 AC: 3484 AN: 5150

South Asian (SAS) AF: 0.496 AC: 2395 AN: 4824

European-Finnish (FIN) AF: 0.731 AC: 7733 AN: 10572

Middle Eastern (MID) AF: 0.554 AC: 163 AN: 294

European-Non Finnish (NFE) AF: 0.595 AC: 40433 AN: 67996

Other (OTH) AF: 0.618 AC: 1303 AN: 2110

Alfa AF: 0.655 Hom.: 4304

Bravo AF: 0.667

Asia WGS AF: 0.620 AC: 2158 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.64
DANN	Benign	0.80
PhyloP100		-1.8

Splicing

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

Other links and lift over

dbSNP: rs636341; hg19: chr11-60019161;