NM_000249.4(MLH1):c.210A>G (p.Lys70=) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 9, 2023
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:
RCV003155236.1

Allele description [Variation Report for NM_000249.4(MLH1):c.210A>G (p.Lys70=)]

NM_000249.4(MLH1):c.210A>G (p.Lys70=)

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.210A>G (p.Lys70=)
HGVS:
  • NC_000003.12:g.37000957A>G
  • NG_007109.2:g.12608A>G
  • NM_000249.4:c.210A>GMANE SELECT
  • NM_001167617.3:c.-80A>G
  • NM_001167618.3:c.-514A>G
  • NM_001167619.3:c.-422A>G
  • NM_001258271.2:c.210A>G
  • NM_001258273.2:c.-514A>G
  • NM_001258274.3:c.-514A>G
  • NM_001354615.2:c.-417A>G
  • NM_001354616.2:c.-422A>G
  • NM_001354617.2:c.-514A>G
  • NM_001354618.2:c.-514A>G
  • NM_001354619.2:c.-514A>G
  • NM_001354620.2:c.-80A>G
  • NM_001354621.2:c.-607A>G
  • NM_001354622.2:c.-720A>G
  • NM_001354623.2:c.-720A>G
  • NM_001354624.2:c.-617A>G
  • NM_001354625.2:c.-520A>G
  • NM_001354626.2:c.-617A>G
  • NM_001354627.2:c.-617A>G
  • NM_001354628.2:c.210A>G
  • NM_001354629.2:c.208-3444A>G
  • NM_001354630.2:c.210A>G
  • NP_000240.1:p.Lys70=
  • NP_000240.1:p.Lys70=
  • NP_001245200.1:p.Lys70=
  • NP_001341557.1:p.Lys70=
  • NP_001341559.1:p.Lys70=
  • LRG_216t1:c.210A>G
  • LRG_216:g.12608A>G
  • LRG_216p1:p.Lys70=
  • NC_000003.11:g.37042448A>G
  • NM_000249.3:c.210A>G
Links:
dbSNP: rs63751191
NCBI 1000 Genomes Browser:
rs63751191
Molecular consequence:
  • NM_001167617.3:c.-80A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167618.3:c.-514A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167619.3:c.-422A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258273.2:c.-514A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258274.3:c.-514A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354615.2:c.-417A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354616.2:c.-422A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354617.2:c.-514A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354618.2:c.-514A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354619.2:c.-514A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354620.2:c.-80A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354621.2:c.-607A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354622.2:c.-720A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354623.2:c.-720A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354624.2:c.-617A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354625.2:c.-520A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354626.2:c.-617A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354627.2:c.-617A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354629.2:c.208-3444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000249.4:c.210A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001258271.2:c.210A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354628.2:c.210A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354630.2:c.210A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003844465Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Feb 9, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003844465.1

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

Last Updated: Sep 29, 2024