U.S. flag

An official website of the United States government

NM_000249.4(MLH1):c.388del (p.Tyr130fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 27, 2018
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:
RCV002354260.2

Allele description [Variation Report for NM_000249.4(MLH1):c.388del (p.Tyr130fs)]

NM_000249.4(MLH1):c.388del (p.Tyr130fs)

Gene:
MLH1:mutL homolog 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000249.4(MLH1):c.388del (p.Tyr130fs)
HGVS:
  • NC_000003.12:g.37006998del
  • NG_007109.2:g.18649del
  • NM_000249.4:c.388delMANE SELECT
  • NM_001167617.3:c.94del
  • NM_001167618.3:c.-336del
  • NM_001167619.3:c.-244del
  • NM_001258271.2:c.388del
  • NM_001258273.2:c.-336del
  • NM_001258274.3:c.-336del
  • NM_001354615.2:c.-244del
  • NM_001354616.2:c.-244del
  • NM_001354617.2:c.-336del
  • NM_001354618.2:c.-336del
  • NM_001354619.2:c.-336del
  • NM_001354620.2:c.94del
  • NM_001354621.2:c.-429del
  • NM_001354622.2:c.-542del
  • NM_001354623.2:c.-542del
  • NM_001354624.2:c.-439del
  • NM_001354625.2:c.-347del
  • NM_001354626.2:c.-439del
  • NM_001354627.2:c.-439del
  • NM_001354628.2:c.388del
  • NM_001354629.2:c.289del
  • NM_001354630.2:c.388del
  • NP_000240.1:p.Tyr130fs
  • NP_001161089.1:p.Tyr32fs
  • NP_001245200.1:p.Tyr130fs
  • NP_001341549.1:p.Tyr32fs
  • NP_001341557.1:p.Tyr130fs
  • NP_001341558.1:p.Tyr97fs
  • NP_001341559.1:p.Tyr130fs
  • LRG_216t1:c.388del
  • LRG_216:g.18649del
  • NC_000003.11:g.37048489del
  • NM_000249.3:c.388delT
Protein change:
Y130fs
Links:
dbSNP: rs587779009
NCBI 1000 Genomes Browser:
rs587779009
Molecular consequence:
  • NM_001167618.3:c.-336del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167619.3:c.-244del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258273.2:c.-336del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258274.3:c.-336del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354615.2:c.-244del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354616.2:c.-244del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354617.2:c.-336del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354618.2:c.-336del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354619.2:c.-336del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354621.2:c.-429del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354622.2:c.-542del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354623.2:c.-542del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354624.2:c.-439del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354625.2:c.-347del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354626.2:c.-439del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354627.2:c.-439del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000249.4:c.388del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001167617.3:c.94del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258271.2:c.388del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354620.2:c.94del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354628.2:c.388del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354629.2:c.289del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354630.2:c.388del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002620638Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Sep 27, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002620638.2

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

Description

The c.388delT pathogenic mutation, located in coding exon 5 of the MLH1 gene, results from a deletion of one nucleotide at nucleotide position 388, causing a translational frameshift with a predicted alternate stop codon (p.Y130Tfs*6). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: May 7, 2024