NM_000249.3(MLH1):c.1219C>T (p.Gln407Ter) AND Hereditary cancer-predisposing syndrome

Clinical significance:Pathogenic (Last evaluated: Jan 15, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001183269.1

Allele description [Variation Report for NM_000249.3(MLH1):c.1219C>T (p.Gln407Ter)]

NM_000249.3(MLH1):c.1219C>T (p.Gln407Ter)

Gene:
MLH1:mutL homolog 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000249.3(MLH1):c.1219C>T (p.Gln407Ter)
HGVS:
  • NC_000003.12:g.37025817C>T
  • NG_007109.2:g.37468C>T
  • NM_000249.3:c.1219C>T
  • NM_001167617.2:c.925C>T
  • NM_001167618.2:c.496C>T
  • NM_001167619.2:c.496C>T
  • NM_001258271.1:c.1219C>T
  • NM_001258273.1:c.496C>T
  • NM_001258274.2:c.496C>T
  • NM_001354615.1:c.496C>T
  • NM_001354616.1:c.496C>T
  • NM_001354617.1:c.496C>T
  • NM_001354618.1:c.496C>T
  • NM_001354619.1:c.496C>T
  • NM_001354620.1:c.925C>T
  • NM_001354621.1:c.196C>T
  • NM_001354622.1:c.196C>T
  • NM_001354623.1:c.196C>T
  • NM_001354624.1:c.145C>T
  • NM_001354625.1:c.145C>T
  • NM_001354626.1:c.145C>T
  • NM_001354627.1:c.145C>T
  • NM_001354628.1:c.1219C>T
  • NM_001354629.1:c.1120C>T
  • NM_001354630.1:c.1219C>T
  • NP_000240.1:p.Gln407Ter
  • NP_001161089.1:p.Gln309Ter
  • NP_001161090.1:p.Gln166Ter
  • NP_001161091.1:p.Gln166Ter
  • NP_001245200.1:p.Gln407Ter
  • NP_001245202.1:p.Gln166Ter
  • NP_001245203.1:p.Gln166Ter
  • NP_001341544.1:p.Gln166Ter
  • NP_001341545.1:p.Gln166Ter
  • NP_001341546.1:p.Gln166Ter
  • NP_001341547.1:p.Gln166Ter
  • NP_001341548.1:p.Gln166Ter
  • NP_001341549.1:p.Gln309Ter
  • NP_001341550.1:p.Gln66Ter
  • NP_001341551.1:p.Gln66Ter
  • NP_001341552.1:p.Gln66Ter
  • NP_001341553.1:p.Gln49Ter
  • NP_001341554.1:p.Gln49Ter
  • NP_001341555.1:p.Gln49Ter
  • NP_001341556.1:p.Gln49Ter
  • NP_001341557.1:p.Gln407Ter
  • NP_001341558.1:p.Gln374Ter
  • NP_001341559.1:p.Gln407Ter
  • LRG_216t1:c.1219C>T
  • LRG_216:g.37468C>T
  • LRG_216p1:p.Gln407Ter
  • NC_000003.11:g.37067308C>T
  • p.Gln407*
Protein change:
Q166*
Links:
dbSNP: rs1057517541
NCBI 1000 Genomes Browser:
rs1057517541
Molecular consequence:
  • NM_000249.3:c.1219C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001167617.2:c.925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001167618.2:c.496C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001167619.2:c.496C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001258271.1:c.1219C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001258273.1:c.496C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001258274.2:c.496C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354615.1:c.496C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354616.1:c.496C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354617.1:c.496C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354618.1:c.496C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354619.1:c.496C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354620.1:c.925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354621.1:c.196C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354622.1:c.196C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354623.1:c.196C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354624.1:c.145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354625.1:c.145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354626.1:c.145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354627.1:c.145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354628.1:c.1219C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354629.1:c.1120C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354630.1:c.1219C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001348953Color Health, Inccriteria provided, single submitter
Pathogenic
(Jan 15, 2020)
germlineclinical testing

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

Description

This variant changes 1 nucleotide in exon 12 of the MLH1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MLH1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

SCV001348953

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Color Health, Inc, SCV001348953.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 26, 2021

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