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NM_024675.4(PALB2):c.3113G>C (p.Trp1038Ser) AND Familial cancer of breast

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 14, 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:
RCV003450453.1

Allele description [Variation Report for NM_024675.4(PALB2):c.3113G>C (p.Trp1038Ser)]

NM_024675.4(PALB2):c.3113G>C (p.Trp1038Ser)

Gene:
PALB2:partner and localizer of BRCA2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p12.2
Genomic location:
Preferred name:
NM_024675.4(PALB2):c.3113G>C (p.Trp1038Ser)
HGVS:
  • NC_000016.10:g.23621362C>G
  • NG_007406.1:g.24996G>C
  • NM_001407296.1:c.3053G>C
  • NM_001407297.1:c.3041G>C
  • NM_001407298.1:c.2951G>C
  • NM_001407299.1:c.3113G>C
  • NM_001407300.1:c.2834+2647G>C
  • NM_001407301.1:c.3113G>C
  • NM_001407302.1:c.2951G>C
  • NM_001407304.1:c.2228G>C
  • NM_001407305.1:c.2228G>C
  • NM_001407306.1:c.2228G>C
  • NM_001407307.1:c.2066G>C
  • NM_001407308.1:c.2228G>C
  • NM_001407309.1:c.2228G>C
  • NM_001407310.1:c.2228G>C
  • NM_001407311.1:c.2228G>C
  • NM_001407312.1:c.1325G>C
  • NM_001407313.1:c.1325G>C
  • NM_001407314.1:c.647G>C
  • NM_024675.4:c.3113G>CMANE SELECT
  • NP_001394225.1:p.Trp1018Ser
  • NP_001394226.1:p.Trp1014Ser
  • NP_001394227.1:p.Trp984Ser
  • NP_001394228.1:p.Trp1038Ser
  • NP_001394230.1:p.Trp1038Ser
  • NP_001394231.1:p.Trp984Ser
  • NP_001394233.1:p.Trp743Ser
  • NP_001394234.1:p.Trp743Ser
  • NP_001394235.1:p.Trp743Ser
  • NP_001394236.1:p.Trp689Ser
  • NP_001394237.1:p.Trp743Ser
  • NP_001394238.1:p.Trp743Ser
  • NP_001394239.1:p.Trp743Ser
  • NP_001394240.1:p.Trp743Ser
  • NP_001394241.1:p.Trp442Ser
  • NP_001394242.1:p.Trp442Ser
  • NP_001394243.1:p.Trp216Ser
  • NP_078951.2:p.Trp1038Ser
  • NP_078951.2:p.Trp1038Ser
  • LRG_308t1:c.3113G>C
  • LRG_308:g.24996G>C
  • LRG_308p1:p.Trp1038Ser
  • NC_000016.9:g.23632683C>G
  • NM_024675.3:c.3113G>C
Protein change:
W1014S
Molecular consequence:
  • NM_001407300.1:c.2834+2647G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407296.1:c.3053G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407297.1:c.3041G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407298.1:c.2951G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407299.1:c.3113G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407301.1:c.3113G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407302.1:c.2951G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407304.1:c.2228G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407305.1:c.2228G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407306.1:c.2228G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407307.1:c.2066G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407308.1:c.2228G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407309.1:c.2228G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407310.1:c.2228G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407311.1:c.2228G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407312.1:c.1325G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407313.1:c.1325G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407314.1:c.647G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024675.4:c.3113G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004188460Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Likely pathogenic
(Sep 14, 2023) 		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., SCV004188460.1

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

Description

This variant is considered likely pathogenic. mRNA analysis has demonstrated abnormal mRNA splicing occurs [Myriad internal data].

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

Last Updated: Sep 8, 2024