NM_032119.4(ADGRV1):c.12143C>A (p.Ser4048Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 22, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001993260.6

Allele description [Variation Report for NM_032119.4(ADGRV1):c.12143C>A (p.Ser4048Ter)]

NM_032119.4(ADGRV1):c.12143C>A (p.Ser4048Ter)

Gene:

ADGRV1:adhesion G protein-coupled receptor V1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q14.3

Genomic location:

Preferred name:

NM_032119.4(ADGRV1):c.12143C>A (p.Ser4048Ter)

HGVS:

NC_000005.10:g.90763327C>A
NG_007083.2:g.238984C>A
NM_032119.4:c.12143C>AMANE SELECT
NP_115495.3:p.Ser4048Ter
LRG_1095t1:c.12143C>A
LRG_1095:g.238984C>A
LRG_1095p1:p.Ser4048Ter
NC_000005.9:g.90059144C>A
NR_003149.2:n.12159C>A

Protein change:

S4048*

Links:

dbSNP: rs2150014852

NCBI 1000 Genomes Browser:

rs2150014852

Molecular consequence:

NR_003149.2:n.12159C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_032119.4:c.12143C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

protein WFDC10B isoform b [Homo sapiens]
protein WFDC10B isoform b [Homo sapiens]
gi|26006867|ref|NP_742143.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002236919	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 22, 2022)	germline	clinical testing	PubMed (9) [See all records that cite these PMIDs] 27460420, 19357117, 22135276, 22147658, 26226137, 30718709, 31047384, 32467589, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002236919

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 22, 2022)

germline

clinical testing

PubMed (9)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.

Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, et al.

Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. Epub 2016 Jul 27.

PubMed [citation]

PMID:: 27460420
PMCID:: PMC5117943

GPR98 mutations cause Usher syndrome type 2 in males.

Ebermann I, Wiesen MH, Zrenner E, Lopez I, Pigeon R, Kohl S, Löwenheim H, Koenekoop RK, Bolz HJ.

J Med Genet. 2009 Apr;46(4):277-80. doi: 10.1136/jmg.2008.059626.

PubMed [citation]

PMID:: 19357117

See all PubMed Citations (9)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002236919.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (9)

Description

This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 27460420). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1451473). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser4048*) in the ADGRV1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ADGRV1 are known to be pathogenic (PMID: 19357117, 22135276, 22147658, 26226137, 30718709, 31047384, 32467589).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine