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NM_020975.6(RET):c.2332G>A (p.Val778Ile) AND Renal hypodysplasia/aplasia 1

Germline classification:
Uncertain significance (2 submissions)
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:
RCV000014983.35

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:
Renal hypodysplasia/aplasia 1 (RHDA1)
Synonyms:
HEREDITARY RENAL APLASIA; RENAL APLASIA; Urogenital adysplasia, hereditary
Identifiers:
MONDO: MONDO:0024519; MedGen: C1619700; Orphanet: 411709; OMIM: 191830

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000035239OMIM
no assertion criteria provided
Uncertain significance
(Feb 1, 2008)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

SCV001265261Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)
Uncertain significance
(Apr 28, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Renal aplasia in humans is associated with RET mutations.

Skinner MA, Safford SD, Reeves JG, Jackson ME, Freemerman AJ.

Am J Hum Genet. 2008 Feb;82(2):344-51. doi: 10.1016/j.ajhg.2007.10.008. Epub 2008 Jan 31.

PubMed [citation]
PMID:
18252215
PMCID:
PMC2427293

Details of each submission

From OMIM, SCV000035239.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

This variant, previously titled RENAL AGENESIS, has been reclassified as a variant of unknown significance because its contribution to renal agenesis (see 191830) has not been confirmed.

In paraffin-embedded tissue samples from 2 unrelated stillborn fetuses with bilateral renal agenesis, Skinner et al. (2008) identified a heterozygous G-to-A transition in exon 13 of the RET gene, resulting in a val778-to-ile (V778I) substitution. One of the fetuses also carried a RET M918T mutation (164761.0013). Parental DNA was not studied. In vitro functional expression studies showed that the V788I mutant protein was constitutively phosphorylated at tyrosine 1062. Skinner et al. (2008) postulated a RET signaling defect resulting in loss of function. The fetuses did not have evidence of Hirschsprung disease (142623), MEN2A (171400), MEN2B (162300), or familial medullary thyroid carcinoma (155240). However, Skinner et al. (2008) noted that these conditions generally present with clinical findings later in childhood; they may have been present in the fetus and not detected by standard autopsy.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From Illumina Laboratory Services, Illumina, SCV001265261.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024