rs2635727

Variant names:

• chr6-50853227-T-A
• rs2635727
• ENST00000791176.1:n.275+442T>A

Your query was ambiguous. Multiple possible variants found:

• chr6-50853227-T-A
• chr6-50853227-T-C
• chr6-50853227-T-G

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The ENST00000791176.1(ENSG00000303025):​n.275+442T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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: not found (cov: 32)
• Consequence: ENSG00000303025 ENST00000791176.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.19
• Publications: 20 publications found

Genes affected

ENSG00000303025 (HGNC:):

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).

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
ENSG00000303025	ENST00000791176.1	n.275+442T>A		intron_variant	Intron 2 of 3
ENSG00000303025	ENST00000791177.1	n.324+442T>A		intron_variant	Intron 2 of 3
ENSG00000303025	ENST00000791178.1	n.289+442T>A		intron_variant	Intron 2 of 3
ENSG00000303025	ENST00000791179.1	n.201+2367T>A		intron_variant	Intron 1 of 2

Frequencies

GnomAD3 genomes Cov.: 32

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

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	0.40
DANN	Benign	0.55
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs2635727; hg19: chr6-50820940;