NM_020975.6(RET):c.2332G>A (p.Val778Ile) AND Hirschsprung disease, susceptibility to, 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 28, 2017
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:: RCV001105833.12

Allele description [Variation Report for NM_020975.6(RET):c.2332G>A (p.Val778Ile)]

NM_020975.6(RET):c.2332G>A (p.Val778Ile)

Gene:

RET:ret proto-oncogene [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q11.21

Genomic location:

Preferred name:

NM_020975.6(RET):c.2332G>A (p.Val778Ile)

HGVS:

NC_000010.11:g.43118420G>A
NG_007489.1:g.46352G>A
NM_000323.2:c.2332G>A
NM_001355216.2:c.1570G>A
NM_001406743.1:c.2332G>A
NM_001406744.1:c.2332G>A
NM_001406759.1:c.2332G>A
NM_001406760.1:c.2332G>A
NM_001406761.1:c.2203G>A
NM_001406762.1:c.2203G>A
NM_001406763.1:c.2197G>A
NM_001406764.1:c.2203G>A
NM_001406765.1:c.2197G>A
NM_001406766.1:c.2044G>A
NM_001406767.1:c.2044G>A
NM_001406768.1:c.2068G>A
NM_001406769.1:c.1936G>A
NM_001406770.1:c.2044G>A
NM_001406771.1:c.1894G>A
NM_001406772.1:c.1936G>A
NM_001406773.1:c.1894G>A
NM_001406774.1:c.1807G>A
NM_001406775.1:c.1606G>A
NM_001406776.1:c.1606G>A
NM_001406777.1:c.1606G>A
NM_001406778.1:c.1606G>A
NM_001406779.1:c.1435G>A
NM_001406780.1:c.1435G>A
NM_001406781.1:c.1435G>A
NM_001406782.1:c.1435G>A
NM_001406783.1:c.1306G>A
NM_001406784.1:c.1342G>A
NM_001406785.1:c.1315G>A
NM_001406786.1:c.1306G>A
NM_001406787.1:c.1300G>A
NM_001406788.1:c.1147G>A
NM_001406789.1:c.1147G>A
NM_001406790.1:c.1147G>A
NM_001406791.1:c.1027G>A
NM_001406792.1:c.883G>A
NM_001406793.1:c.883G>A
NM_001406794.1:c.883G>A
NM_020629.2:c.2332G>A
NM_020630.7:c.2332G>A
NM_020975.6:c.2332G>AMANE SELECT
NP_000314.1:p.Val778Ile
NP_001342145.1:p.Val524Ile
NP_001342145.1:p.Val524Ile
NP_001393672.1:p.Val778Ile
NP_001393673.1:p.Val778Ile
NP_001393688.1:p.Val778Ile
NP_001393689.1:p.Val778Ile
NP_001393690.1:p.Val735Ile
NP_001393691.1:p.Val735Ile
NP_001393692.1:p.Val733Ile
NP_001393693.1:p.Val735Ile
NP_001393694.1:p.Val733Ile
NP_001393695.1:p.Val682Ile
NP_001393696.1:p.Val682Ile
NP_001393697.1:p.Val690Ile
NP_001393698.1:p.Val646Ile
NP_001393699.1:p.Val682Ile
NP_001393700.1:p.Val632Ile
NP_001393701.1:p.Val646Ile
NP_001393702.1:p.Val632Ile
NP_001393703.1:p.Val603Ile
NP_001393704.1:p.Val536Ile
NP_001393705.1:p.Val536Ile
NP_001393706.1:p.Val536Ile
NP_001393707.1:p.Val536Ile
NP_001393708.1:p.Val479Ile
NP_001393709.1:p.Val479Ile
NP_001393710.1:p.Val479Ile
NP_001393711.1:p.Val479Ile
NP_001393712.1:p.Val436Ile
NP_001393713.1:p.Val448Ile
NP_001393714.1:p.Val439Ile
NP_001393715.1:p.Val436Ile
NP_001393716.1:p.Val434Ile
NP_001393717.1:p.Val383Ile
NP_001393718.1:p.Val383Ile
NP_001393719.1:p.Val383Ile
NP_001393720.1:p.Val343Ile
NP_001393721.1:p.Val295Ile
NP_001393722.1:p.Val295Ile
NP_001393723.1:p.Val295Ile
NP_065680.1:p.Val778Ile
NP_065681.1:p.Val778Ile
NP_065681.1:p.Val778Ile
NP_065681.1:p.Val778Ile
NP_066124.1:p.Val778Ile
NP_066124.1:p.Val778Ile
LRG_518t1:c.2332G>A
LRG_518t2:c.2332G>A
LRG_518:g.46352G>A
LRG_518p1:p.Val778Ile
LRG_518p2:p.Val778Ile
NC_000010.10:g.43613868G>A
NM_001355216.1:c.1570G>A
NM_020630.4:c.2332G>A
NM_020630.6:c.2332G>A
NM_020975.4:c.2332G>A
P07949:p.Val778Ile

Protein change:

V295I; VAL778ILE

Links:

UniProtKB: P07949#VAR_044395; OMIM: 164761.0053; dbSNP: rs75686697

NCBI 1000 Genomes Browser:

rs75686697

Molecular consequence:

NM_000323.2:c.2332G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001355216.2:c.1570G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406743.1:c.2332G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406744.1:c.2332G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406759.1:c.2332G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406760.1:c.2332G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406761.1:c.2203G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406762.1:c.2203G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406763.1:c.2197G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406764.1:c.2203G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406765.1:c.2197G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406766.1:c.2044G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406767.1:c.2044G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406768.1:c.2068G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406769.1:c.1936G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406770.1:c.2044G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406771.1:c.1894G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406772.1:c.1936G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406773.1:c.1894G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406774.1:c.1807G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406775.1:c.1606G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406776.1:c.1606G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406777.1:c.1606G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406778.1:c.1606G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406779.1:c.1435G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406780.1:c.1435G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406781.1:c.1435G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406782.1:c.1435G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406783.1:c.1306G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406784.1:c.1342G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406785.1:c.1315G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406786.1:c.1306G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406787.1:c.1300G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406788.1:c.1147G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406789.1:c.1147G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406790.1:c.1147G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406791.1:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406792.1:c.883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406793.1:c.883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406794.1:c.883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020629.2:c.2332G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020630.7:c.2332G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020975.6:c.2332G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hirschsprung disease, susceptibility to, 1
Synonyms:: Hirschsprung disease 1; HSCR 1; RET-Related Hirschsprung Disease
Identifiers:: MONDO: MONDO:0007723; MedGen: C3888239; Orphanet: 388; OMIM: 142623

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001262839	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Uncertain significance (Apr 28, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001262839

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Uncertain significance
(Apr 28, 2017)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001262839.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#	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: Oct 26, 2024

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