NM_000249.4(MLH1):c.925C>T (p.Pro309Ser) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Dec 24, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000486267.2

Allele description [Variation Report for NM_000249.4(MLH1):c.925C>T (p.Pro309Ser)]

NM_000249.4(MLH1):c.925C>T (p.Pro309Ser)

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.925C>T (p.Pro309Ser)
HGVS:
  • NC_000003.12:g.37020350C>T
  • NG_007109.2:g.32001C>T
  • NM_000249.3:c.925C>T
  • NM_000249.4:c.925C>TMANE SELECT
  • NM_001167617.3:c.631C>T
  • NM_001167618.3:c.202C>T
  • NM_001167619.3:c.202C>T
  • NM_001258271.2:c.925C>T
  • NM_001258273.2:c.202C>T
  • NM_001258274.3:c.202C>T
  • NM_001354615.2:c.202C>T
  • NM_001354616.2:c.202C>T
  • NM_001354617.2:c.202C>T
  • NM_001354618.2:c.202C>T
  • NM_001354619.2:c.202C>T
  • NM_001354620.2:c.631C>T
  • NM_001354621.2:c.-99C>T
  • NM_001354622.2:c.-99C>T
  • NM_001354623.2:c.-99C>T
  • NM_001354624.2:c.-36-5287C>T
  • NM_001354625.2:c.-36-5287C>T
  • NM_001354626.2:c.-36-5287C>T
  • NM_001354627.2:c.-36-5287C>T
  • NM_001354628.2:c.925C>T
  • NM_001354629.2:c.826C>T
  • NM_001354630.2:c.925C>T
  • NP_000240.1:p.Pro309Ser
  • NP_000240.1:p.Pro309Ser
  • NP_001161089.1:p.Pro211Ser
  • NP_001161090.1:p.Pro68Ser
  • NP_001161091.1:p.Pro68Ser
  • NP_001245200.1:p.Pro309Ser
  • NP_001245202.1:p.Pro68Ser
  • NP_001245203.1:p.Pro68Ser
  • NP_001341544.1:p.Pro68Ser
  • NP_001341545.1:p.Pro68Ser
  • NP_001341546.1:p.Pro68Ser
  • NP_001341547.1:p.Pro68Ser
  • NP_001341548.1:p.Pro68Ser
  • NP_001341549.1:p.Pro211Ser
  • NP_001341557.1:p.Pro309Ser
  • NP_001341558.1:p.Pro276Ser
  • NP_001341559.1:p.Pro309Ser
  • LRG_216t1:c.925C>T
  • LRG_216:g.32001C>T
  • LRG_216p1:p.Pro309Ser
  • NC_000003.11:g.37061841C>T
  • P40692:p.Pro309Ser
Protein change:
P211S
Links:
UniProtKB: P40692#VAR_038025; dbSNP: rs267607808
NCBI 1000 Genomes Browser:
rs267607808
Molecular consequence:
  • NM_001354621.2:c.-99C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354622.2:c.-99C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354623.2:c.-99C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354624.2:c.-36-5287C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354625.2:c.-36-5287C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354626.2:c.-36-5287C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354627.2:c.-36-5287C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000249.3:c.925C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000249.4:c.925C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167617.3:c.631C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167618.3:c.202C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167619.3:c.202C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258271.2:c.925C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258273.2:c.202C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258274.3:c.202C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354615.2:c.202C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354616.2:c.202C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354617.2:c.202C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354618.2:c.202C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354619.2:c.202C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354620.2:c.631C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354628.2:c.925C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354629.2:c.826C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354630.2:c.925C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000567201GeneDxcriteria provided, single submitter
Uncertain significance
(Dec 24, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000567201.4

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

Description

Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 18033691, 25871441)

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

Last Updated: Oct 30, 2021

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