NM_201525.4(ADGRG1):c.944_945dup (p.Val316fs) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 20, 2016
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:: RCV000482949.1

Allele description

NM_201525.4(ADGRG1):c.944_945dup (p.Val316fs)

Gene:

ADGRG1:adhesion G protein-coupled receptor G1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

16q21

Genomic location:

Preferred name:

NM_201525.4(ADGRG1):c.944_945dup (p.Val316fs)

HGVS:

NC_000016.10:g.57655919_57655920dup
NG_011643.1:g.40922_40923dup
NM_001145770.3:c.944_945dup
NM_001145771.3:c.944_945dup
NM_001145772.3:c.944_945dup
NM_001145773.3:c.959_960dup
NM_001145774.3:c.944_945dup
NM_001290142.2:c.434_435dup
NM_001290143.2:c.419_420dup
NM_001290144.2:c.419_420dup
NM_001370428.1:c.944_945dup
NM_001370429.1:c.944_945dup
NM_001370430.1:c.944_945dup
NM_001370431.1:c.944_945dup
NM_001370432.1:c.944_945dup
NM_001370433.1:c.959_960dup
NM_001370434.1:c.944_945dup
NM_001370435.1:c.944_945dup
NM_001370436.1:c.944_945dup
NM_001370437.1:c.944_945dup
NM_001370438.1:c.944_945dup
NM_001370439.1:c.944_945dup
NM_001370440.1:c.944_945dup
NM_001370441.1:c.944_945dup
NM_001370442.1:c.788_789dup
NM_001370451.1:c.419_420dup
NM_001370453.1:c.419_420dup
NM_001370454.1:c.419_420dup
NM_005682.7:c.944_945dup
NM_201524.4:c.944_945dup
NM_201525.4:c.944_945dupMANE SELECT
NP_001139242.1:p.Val316fs
NP_001139243.1:p.Val316fs
NP_001139244.1:p.Val316fs
NP_001139245.1:p.Val321fs
NP_001139246.1:p.Val316fs
NP_001277071.1:p.Val146fs
NP_001277072.1:p.Val141fs
NP_001277073.1:p.Val141fs
NP_001357357.1:p.Val316fs
NP_001357358.1:p.Val316fs
NP_001357359.1:p.Val316fs
NP_001357360.1:p.Val316fs
NP_001357361.1:p.Val316fs
NP_001357362.1:p.Val321fs
NP_001357363.1:p.Val316fs
NP_001357364.1:p.Val316fs
NP_001357365.1:p.Val316fs
NP_001357366.1:p.Val316fs
NP_001357367.1:p.Val316fs
NP_001357368.1:p.Val316fs
NP_001357369.1:p.Val316fs
NP_001357370.1:p.Val316fs
NP_001357371.1:p.Val264fs
NP_001357380.1:p.Val141fs
NP_001357382.1:p.Val141fs
NP_001357383.1:p.Val141fs
NP_005673.3:p.Val316fs
NP_958932.1:p.Val316fs
NP_958933.1:p.Val316fs
NC_000016.9:g.57689831_57689832dup
NM_005682.5:c.944_945dup
NM_005682.5:c.944_945dupTT

Protein change:

V141fs

Links:

dbSNP: rs797045602

NCBI 1000 Genomes Browser:

rs797045602

Molecular consequence:

NM_001145770.3:c.944_945dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001145771.3:c.944_945dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001145772.3:c.944_945dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001145773.3:c.959_960dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001145774.3:c.944_945dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001290142.2:c.434_435dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001290143.2:c.419_420dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001290144.2:c.419_420dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370428.1:c.944_945dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370429.1:c.944_945dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370430.1:c.944_945dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370431.1:c.944_945dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370432.1:c.944_945dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370433.1:c.959_960dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370434.1:c.944_945dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370435.1:c.944_945dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370436.1:c.944_945dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370437.1:c.944_945dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370438.1:c.944_945dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370439.1:c.944_945dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370440.1:c.944_945dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370441.1:c.944_945dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370442.1:c.788_789dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370451.1:c.419_420dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370453.1:c.419_420dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370454.1:c.419_420dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_005682.7:c.944_945dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_201524.4:c.944_945dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_201525.4:c.944_945dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000569198	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jan 20, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000569198

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jan 20, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000569198.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.944_945dupTT pathogenic variant in the GPR56 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.944_945dupTT variant causes a frameshift starting with codon Valine 316, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 8 of the new reading frame, denoted p.Val316LeufsX8. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.944_945dupTT variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.944_945dupTT as a pathogenic variant.

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

Last Updated: Feb 27, 2021

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