NM_024675.4(PALB2):c.2787T>G (p.Tyr929Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 28, 2016
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:: RCV000568858.3

Allele description [Variation Report for NM_024675.4(PALB2):c.2787T>G (p.Tyr929Ter)]

NM_024675.4(PALB2):c.2787T>G (p.Tyr929Ter)

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.2787T>G (p.Tyr929Ter)

HGVS:

NC_000016.10:g.23624056A>C
NG_007406.1:g.22302T>G
NM_024675.4:c.2787T>GMANE SELECT
NP_078951.2:p.Tyr929Ter
NP_078951.2:p.Tyr929Ter
LRG_308t1:c.2787T>G
LRG_308:g.22302T>G
LRG_308p1:p.Tyr929Ter
NC_000016.9:g.23635377A>C
NM_024675.3:c.2787T>G

Protein change:

Y929*

Links:

dbSNP: rs876660669

NCBI 1000 Genomes Browser:

rs876660669

Molecular consequence:

NM_024675.4:c.2787T>G - nonsense - [Sequence Ontology: SO:0001587]

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

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Rattus norvegicus tetratricopeptide repeat domain 38 (Ttc38), mRNA
Rattus norvegicus tetratricopeptide repeat domain 38 (Ttc38), mRNA
gi|194473651|ref|NM_001130499.1|

Nucleotide
JGI_CABC4808.rev NIH_XGC_tropFat1 Xenopus tropicalis cDNA clone IMAGE:7801180 3'...
JGI_CABC4808.rev NIH_XGC_tropFat1 Xenopus tropicalis cDNA clone IMAGE:7801180 3', mRNA sequence
gi|71452837|gnl|dbEST|30346145|gb|D 97.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000670669	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jul 28, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000670669

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jul 28, 2016)

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

Details of each submission

From Ambry Genetics, SCV000670669.5

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

Description

The p.Y929* pathogenic mutation (also known as c.2787T>G), located in coding exon 8 of the PALB2 gene, results from a T to G substitution at nucleotide position 2787. This changes the amino acid from a tyrosine to a stop codon within coding exon 8. 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.

#	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: May 1, 2024

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