rs3838646

Positions:

• chrY-18991181-CCA-C

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 0)
• Consequence: CD24P4 intragenic
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.91

Genes affected

TTTY14 (HGNC:):

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
CD24P4		n.18991182_18991183delCA		intragenic_variant
TTTY14	NR_001543.4	n.504-58342_504-58341delTG		intron_variant
TTTY14	NR_125733.1	n.579-57708_579-57707delTG		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
TTTY14	ENST00000331787.2	n.373-58342_373-58341delTG		intron_variant		1
TTTY14	ENST00000452584.5	n.335+53359_335+53360delTG		intron_variant		3
TTTY14	ENST00000454875.2	n.330+85862_330+85863delTG		intron_variant		2

Frequencies

GnomAD3 genomes Cov.: 0

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

GnomAD4 genome Cov.: 0

Asia WGS AF: 0.0270 AC: 26 AN: 956

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs3838646; hg19: chrY-21153067; COSMIC: COSV59315615;