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NM_001903.5(CTNNA1):c.1430_1433del (p.Ser477fs) AND Hereditary diffuse gastric adenocarcinoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 5, 2024
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:
RCV004442589.1

Allele description [Variation Report for NM_001903.5(CTNNA1):c.1430_1433del (p.Ser477fs)]

NM_001903.5(CTNNA1):c.1430_1433del (p.Ser477fs)

Gene:
CTNNA1:catenin alpha 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5q31.2
Genomic location:
Preferred name:
NM_001903.5(CTNNA1):c.1430_1433del (p.Ser477fs)
HGVS:
  • NC_000005.10:g.138917782_138917785del
  • NG_047029.1:g.169387_169390del
  • NM_001290307.3:c.1430_1433del
  • NM_001290309.3:c.1121_1124del
  • NM_001290310.3:c.1061_1064del
  • NM_001290312.1:c.320_323del
  • NM_001323982.2:c.1430_1433del
  • NM_001323983.1:c.1430_1433del
  • NM_001323984.2:c.1430_1433del
  • NM_001323985.2:c.1430_1433del
  • NM_001323986.2:c.1337_1340del
  • NM_001323987.1:c.320_323del
  • NM_001323988.1:c.320_323del
  • NM_001323989.1:c.320_323del
  • NM_001323990.1:c.320_323del
  • NM_001323991.1:c.320_323del
  • NM_001323992.1:c.320_323del
  • NM_001323993.1:c.320_323del
  • NM_001323994.1:c.320_323del
  • NM_001323995.1:c.320_323del
  • NM_001323996.1:c.320_323del
  • NM_001323997.1:c.320_323del
  • NM_001323998.1:c.320_323del
  • NM_001323999.1:c.320_323del
  • NM_001324000.1:c.320_323del
  • NM_001324001.1:c.320_323del
  • NM_001324002.1:c.320_323del
  • NM_001324003.1:c.320_323del
  • NM_001324004.1:c.320_323del
  • NM_001324005.1:c.320_323del
  • NM_001324006.1:c.-20_-17del
  • NM_001324007.1:c.-20_-17del
  • NM_001324008.1:c.-20_-17del
  • NM_001324009.1:c.-20_-17del
  • NM_001324010.1:c.-20_-17del
  • NM_001324011.1:c.227_230del
  • NM_001324012.1:c.77_80del
  • NM_001324013.1:c.77_80del
  • NM_001903.5:c.1430_1433delMANE SELECT
  • NP_001277236.1:p.Ser477fs
  • NP_001277238.1:p.Ser374fs
  • NP_001277239.1:p.Ser354fs
  • NP_001277241.1:p.Ser107fs
  • NP_001310911.1:p.Ser477fs
  • NP_001310912.1:p.Ser477fs
  • NP_001310913.1:p.Ser477fs
  • NP_001310914.1:p.Ser477fs
  • NP_001310915.1:p.Ser446fs
  • NP_001310916.1:p.Ser107fs
  • NP_001310917.1:p.Ser107fs
  • NP_001310918.1:p.Ser107fs
  • NP_001310919.1:p.Ser107fs
  • NP_001310920.1:p.Ser107fs
  • NP_001310921.1:p.Ser107fs
  • NP_001310922.1:p.Ser107fs
  • NP_001310923.1:p.Ser107fs
  • NP_001310924.1:p.Ser107fs
  • NP_001310925.1:p.Ser107fs
  • NP_001310926.1:p.Ser107fs
  • NP_001310927.1:p.Ser107fs
  • NP_001310928.1:p.Ser107fs
  • NP_001310929.1:p.Ser107fs
  • NP_001310930.1:p.Ser107fs
  • NP_001310931.1:p.Ser107fs
  • NP_001310932.1:p.Ser107fs
  • NP_001310933.1:p.Ser107fs
  • NP_001310934.1:p.Ser107fs
  • NP_001310940.1:p.Ser76fs
  • NP_001310941.1:p.Ser26fs
  • NP_001310942.1:p.Ser26fs
  • NP_001894.2:p.Ser477fs
  • NC_000005.9:g.138253471_138253474del
Protein change:
S107fs
Molecular consequence:
  • NM_001324006.1:c.-20_-17del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001324007.1:c.-20_-17del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001324008.1:c.-20_-17del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001324009.1:c.-20_-17del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001324010.1:c.-20_-17del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001290307.3:c.1430_1433del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001290309.3:c.1121_1124del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001290310.3:c.1061_1064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001290312.1:c.320_323del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323982.2:c.1430_1433del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323983.1:c.1430_1433del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323984.2:c.1430_1433del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323985.2:c.1430_1433del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323986.2:c.1337_1340del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323987.1:c.320_323del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323988.1:c.320_323del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323989.1:c.320_323del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323990.1:c.320_323del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323991.1:c.320_323del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323992.1:c.320_323del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323993.1:c.320_323del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323994.1:c.320_323del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323995.1:c.320_323del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323996.1:c.320_323del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323997.1:c.320_323del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323998.1:c.320_323del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323999.1:c.320_323del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001324000.1:c.320_323del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001324001.1:c.320_323del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001324002.1:c.320_323del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001324003.1:c.320_323del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001324004.1:c.320_323del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001324005.1:c.320_323del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001324011.1:c.227_230del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001324012.1:c.77_80del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001324013.1:c.77_80del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001903.5:c.1430_1433del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hereditary diffuse gastric adenocarcinoma (HDGC)
Synonyms:
DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME
Identifiers:
MONDO: MONDO:0007648; MedGen: C1708349; Orphanet: 26106; OMIM: 137215

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004930907Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Feb 5, 2024) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004930907.1

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

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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

Last Updated: Dec 22, 2024