NM_024675.4(PALB2):c.113C>T (p.Ala38Val) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: May 18, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000774648.8

Allele description [Variation Report for NM_024675.4(PALB2):c.113C>T (p.Ala38Val)]

NM_024675.4(PALB2):c.113C>T (p.Ala38Val)

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.113C>T (p.Ala38Val)

HGVS:

NC_000016.10:g.23637948G>A
NG_007406.1:g.8410C>T
NM_024675.4:c.113C>TMANE SELECT
NP_078951.2:p.Ala38Val
NP_078951.2:p.Ala38Val
LRG_308t1:c.113C>T
LRG_308:g.8410C>T
LRG_308p1:p.Ala38Val
NC_000016.9:g.23649269G>A
NM_024675.3:c.113C>T

Protein change:

A38V

Links:

dbSNP: rs371875379

NCBI 1000 Genomes Browser:

rs371875379

Molecular consequence:

NM_024675.4:c.113C>T - missense variant - [Sequence Ontology: SO:0001583]

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

cytochrome c oxidase subunit I, partial (mitochondrion) [Arthropeas sp.]
cytochrome c oxidase subunit I, partial (mitochondrion) [Arthropeas sp.]
gi|2175037321|gb|UIK45046.1|

Protein
Homo sapiens mRNA; cDNA DKFZp686I2332 (from clone DKFZp686I2332)
Homo sapiens mRNA; cDNA DKFZp686I2332 (from clone DKFZp686I2332)
gi|34367319|emb|BX648160.1|

Nucleotide
Papilio clytia
Papilio clytia
Chilasa clytia sequencing for identifying mimicry polymorphism loci

BioProject
Bos taurus chromosome 25 C16orf82 homolog (C25H16orf82), mRNA
Bos taurus chromosome 25 C16orf82 homolog (C25H16orf82), mRNA
gi|485464568|ref|NM_001145758.2|

Nucleotide
Dicaeum pectorale voucher NRM_572251 ornithine decarboxylase (ODC) gene, partial...
Dicaeum pectorale voucher NRM_572251 ornithine decarboxylase (ODC) gene, partial cds
gi|2371280016|gb|MW219476.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000908519	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 27, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001178512	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 18, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000908519

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 27, 2018)

germline

clinical testing

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

SCV001178512

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 18, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Diagnostics, LLC DBA Color Health, SCV000908519.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Ambry Genetics, SCV001178512.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.A38V variant (also known as c.113C>T), located in coding exon 3 of the PALB2 gene, results from a C to T substitution at nucleotide position 113. The alanine at codon 38 is replaced by valine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine