rs237596

Variant names:

• chr10-27340817-G-A
• rs237596
• ENST00000422707.1:n.274C>T

Your query was ambiguous. Multiple possible variants found:

• chr10-27340817-G-A
• chr10-27340817-G-C
• chr10-27340817-G-T

Variant summary

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

The ENST00000422707.1(ENSG00000215409):​n.274C>T variant causes a non coding transcript exon 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: 31)
  • Exomes 𝑓: 0.0 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: ENSG00000215409 ENST00000422707.1 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.904
• Publications: 2 publications found

Genes affected

ENSG00000215409 (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=-0.74).

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000422707.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000215409	ENST00000422707.1	TSL:6	n.274C>T		non_coding_transcript_exon	Exon 2 of 6
	ENSG00000262412	ENST00000787620.1		n.302-13889G>A		intron	N/A
	ENSG00000262412	ENST00000787621.1		n.546-16270G>A		intron	N/A

Frequencies

GnomAD3 genomes Cov.: 31

GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0 AN: 227798 Hom.: 0 Cov.: 3 AF XY: 0.00 AC XY: 0 AN XY: 129252

African (AFR) AF: 0.00 AC: 0 AN: 5398

American (AMR) AF: 0.00 AC: 0 AN: 13530

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 6308

East Asian (EAS) AF: 0.00 AC: 0 AN: 13000

South Asian (SAS) AF: 0.00 AC: 0 AN: 20802

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 26694

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 2468

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 128284

Other (OTH) AF: 0.00 AC: 0 AN: 11314

GnomAD4 genome Cov.: 31

Alfa AF: 0.00 Hom.: 4555

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.74
CADD	Benign	2.0
DANN	Benign	0.76
PhyloP100		0.90

Splicing

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

Other links and lift over

dbSNP: rs237596; hg19: chr10-27629746;