Y-12168275-G-C

Variant names:

• chrY-12168275-G-C
• rs17269396
• ENST00000651802.1:n.712+34726C>G

Variant summary

Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BP4_Strong

The ENST00000651802.1(ENSG00000291034):​n.712+34726C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. 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 0.000031 (0 hom., 1 hem., cov: 0)
• Consequence: ENSG00000291034 ENST00000651802.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.300
• Publications: 2 publications found

Genes affected

ENSG00000291034 (HGNC:):

ACMG classification

Our verdict: Likely_benign. The variant received -4 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000651802.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

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

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000291034	ENST00000651802.1		n.712+34726C>G		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.0000306 AC: 1 AN: 32653 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.000119

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00

Gnomad OTH AF: 0.00

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

GnomAD4 genome AF: 0.0000306 AC: 1 AN: 32653 Hom.: 0 Cov.: 0 AF XY: 0.0000306 AC XY: 1 AN XY: 32653

African (AFR) AF: 0.000119 AC: 1 AN: 8416

American (AMR) AF: 0.00 AC: 0 AN: 3554

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 759

East Asian (EAS) AF: 0.00 AC: 0 AN: 1261

South Asian (SAS) AF: 0.00 AC: 0 AN: 1449

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 3235

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 72

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 13246

Other (OTH) AF: 0.00 AC: 0 AN: 449

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	3.0
DANN	Benign	0.51
PhyloP100		0.30

Splicing

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

Other links and lift over

dbSNP: rs17269396; hg19: chrY-14288981;