chr3-120167613-G-GC

Position:

• chr3-120167613-G-GC

Variant summary

Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2 PP5

The NM_153002.3(GPR156):​c.1863dupG​(p.His622fs) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Likely pathogenic (no stars).

• Frequency: Genomes: not found (cov: 33)
• Consequence: GPR156 NM_153002.3 frameshift
• Clinical Significance: Pathogenic/Likely pathogenic no assertion criteria provided P:2
• Conservation: PhyloP100: 0.546

Genes affected

GPR156 (HGNC:20844): (G protein-coupled receptor 156) G protein-coupled receptors (GPCRs) are a large superfamily of cell surface receptors characterized by 7 helical transmembrane domains, together with N-terminal extracellular and C-terminal intracellular domains.[supplied by OMIM, Mar 2008]

LOC105374065 (HGNC:):

ACMG classification

Verdict is Uncertain_significance. Variant got 3 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• PP5: Variant 3-120167613-G-GC is Pathogenic according to our data. Variant chr3-120167613-G-GC is described in ClinVar as [Likely_pathogenic]. Clinvar id is 2574565.Status of the report is no_assertion_criteria_provided, 0 stars.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
GPR156	NM_153002.3	c.1863dupG	p.His622fs	frameshift_variant	10/10	ENST00000464295.6	NP_694547.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
GPR156	ENST00000464295.6	c.1863dupG	p.His622fs	frameshift_variant	10/10	5	NM_153002.3	ENSP00000417261.1
GPR156	ENST00000461057.1	c.1851dupG	p.His618fs	frameshift_variant	9/9	1		ENSP00000418758.1
GPR156	ENST00000495912.5	n.*926dupG		non_coding_transcript_exon_variant	4/4	5		ENSP00000417191.1
GPR156	ENST00000495912.5	n.*926dupG		3_prime_UTR_variant	4/4	5		ENSP00000417191.1

Frequencies

GnomAD3 genomes Cov.: 33

GnomAD4 exome Cov.: 30

GnomAD4 genome Cov.: 33

ClinVar

Significance: Pathogenic/Likely pathogenic

Submissions summary: Pathogenic:2

Revision: no assertion criteria provided

Submissions by phenotype

Hearing loss, autosomal recessive Pathogenic:1

Likely pathogenic, no assertion criteria provided

research

Mustafa Tekin Lab, University Of Miami, Miller School Of Medicine

May 24, 2023

- -

Hearing loss, autosomal recessive 121 Pathogenic:1

Pathogenic, no assertion criteria provided

literature only

OMIM

Oct 26, 2023

- -

Computational scores

Source: dbNSFP v4.3

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Publications

No publications associated with this variant yet.

Other links and lift over

hg19: chr3-119886460;