NM_000249.4(MLH1):c.2210A>T (p.Asp737Val) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 4, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000115474.8

Allele description [Variation Report for NM_000249.4(MLH1):c.2210A>T (p.Asp737Val)]

NM_000249.4(MLH1):c.2210A>T (p.Asp737Val)

Gene:
MLH1:mutL homolog 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000249.4(MLH1):c.2210A>T (p.Asp737Val)
Other names:
p.D737V:GAT>GTT
HGVS:
  • NC_000003.12:g.37050592A>T
  • NG_007109.2:g.62243A>T
  • NM_000249.3:c.2210A>T
  • NM_000249.4:c.2210A>TMANE SELECT
  • NM_001167617.3:c.1916A>T
  • NM_001167618.3:c.1487A>T
  • NM_001167619.3:c.1487A>T
  • NM_001258271.2:c.2003A>T
  • NM_001258273.2:c.1487A>T
  • NM_001258274.3:c.1487A>T
  • NM_001354615.2:c.1487A>T
  • NM_001354616.2:c.1487A>T
  • NM_001354617.2:c.1487A>T
  • NM_001354618.2:c.1487A>T
  • NM_001354619.2:c.1487A>T
  • NM_001354620.2:c.1916A>T
  • NM_001354621.2:c.1187A>T
  • NM_001354622.2:c.1187A>T
  • NM_001354623.2:c.1187A>T
  • NM_001354624.2:c.1136A>T
  • NM_001354625.2:c.1136A>T
  • NM_001354626.2:c.1136A>T
  • NM_001354627.2:c.1136A>T
  • NM_001354628.2:c.2117A>T
  • NM_001354629.2:c.2111A>T
  • NM_001354630.2:c.2045A>T
  • NP_000240.1:p.Asp737Val
  • NP_000240.1:p.Asp737Val
  • NP_001161089.1:p.Asp639Val
  • NP_001161090.1:p.Asp496Val
  • NP_001161091.1:p.Asp496Val
  • NP_001245200.1:p.Asp668Val
  • NP_001245202.1:p.Asp496Val
  • NP_001245203.1:p.Asp496Val
  • NP_001341544.1:p.Asp496Val
  • NP_001341545.1:p.Asp496Val
  • NP_001341546.1:p.Asp496Val
  • NP_001341547.1:p.Asp496Val
  • NP_001341548.1:p.Asp496Val
  • NP_001341549.1:p.Asp639Val
  • NP_001341550.1:p.Asp396Val
  • NP_001341551.1:p.Asp396Val
  • NP_001341552.1:p.Asp396Val
  • NP_001341553.1:p.Asp379Val
  • NP_001341554.1:p.Asp379Val
  • NP_001341555.1:p.Asp379Val
  • NP_001341556.1:p.Asp379Val
  • NP_001341557.1:p.Asp706Val
  • NP_001341558.1:p.Asp704Val
  • NP_001341559.1:p.Asp682Val
  • LRG_216t1:c.2210A>T
  • LRG_216:g.62243A>T
  • LRG_216p1:p.Asp737Val
  • NC_000003.11:g.37092083A>T
Protein change:
D379V
Links:
dbSNP: rs267607885
NCBI 1000 Genomes Browser:
rs267607885
Molecular consequence:
  • NM_000249.3:c.2210A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000249.4:c.2210A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167617.3:c.1916A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167618.3:c.1487A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167619.3:c.1487A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258271.2:c.2003A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258273.2:c.1487A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258274.3:c.1487A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354615.2:c.1487A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354616.2:c.1487A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354617.2:c.1487A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354618.2:c.1487A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354619.2:c.1487A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354620.2:c.1916A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354621.2:c.1187A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354622.2:c.1187A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354623.2:c.1187A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354624.2:c.1136A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354625.2:c.1136A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354626.2:c.1136A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354627.2:c.1136A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354628.2:c.2117A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354629.2:c.2111A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354630.2:c.2045A>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000149383GeneDxcriteria provided, single submitter
Uncertain significance
(Mar 4, 2021)
germlineclinical testing

Citation Link,

SCV001500307CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Aug 1, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000149383.14

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

Description

Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in trans with a MLH1 pathogenic variant in an individual meeting Amsterdam criteria; however, the variant was shown to not segregate with disease (Mangold 2005, Pagenstecher 2006); Published functional studies demonstrate no damaging effect: shown to be non-pathogenic via oligonucleotide-directed mutation screening (Houlleberghs 2020); This variant is associated with the following publications: (PMID: 9419403, 22949387, 18383312, 15849733, 21404117, 16341550, 23760103, 23435383, 31784484)

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001500307.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 30, 2021

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