U.S. flag

An official website of the United States government

NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) AND Fanconi anemia complementation group N

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 2007
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000001306.4

Allele description [Variation Report for NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter)]

NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter)

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.2962C>T (p.Gln988Ter)
HGVS:
  • NC_000016.10:g.23623003G>A
  • NG_007406.1:g.23355C>T
  • NM_024675.4:c.2962C>TMANE SELECT
  • NP_078951.2:p.Gln988Ter
  • NP_078951.2:p.Gln988Ter
  • LRG_308t1:c.2962C>T
  • LRG_308:g.23355C>T
  • LRG_308p1:p.Gln988Ter
  • NC_000016.9:g.23634324G>A
  • NM_024675.3:c.2962C>T
  • p.Q988*
Protein change:
Q988*; GLN988TER
Links:
OMIM: 610355.0004; dbSNP: rs118203999
NCBI 1000 Genomes Browser:
rs118203999
Molecular consequence:
  • NM_024675.4:c.2962C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Fanconi anemia complementation group N
Identifiers:
MONDO: MONDO:0012565; MedGen: C1835817; Orphanet: 84; OMIM: 610832

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
SCV000021456OMIM
no assertion criteria provided
Pathogenic
(Feb 1, 2007) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.

Reid S, Schindler D, Hanenberg H, Barker K, Hanks S, Kalb R, Neveling K, Kelly P, Seal S, Freund M, Wurm M, Batish SD, Lach FP, Yetgin S, Neitzel H, Ariffin H, Tischkowitz M, Mathew CG, Auerbach AD, Rahman N.

Nat Genet. 2007 Feb;39(2):162-4. Epub 2006 Dec 31.

PubMed [citation]
PMID:
17200671

Details of each submission

From OMIM, SCV000021456.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a British family with Fanconi anemia, complementation group N (FANCN; 610832), Reid et al. (2007) found a 2962C-T transition in exon 9 of the PALB2 gene, resulting in premature termination of the protein (Q988X), in compound heterozygosity with a second premature termination mutation (610355.0003).

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

Last Updated: Sep 29, 2024