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NM_032444.4(SLX4):c.2949C>T (p.Tyr983=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 31, 2012
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:
RCV001194837.1

Allele description [Variation Report for NM_032444.4(SLX4):c.2949C>T (p.Tyr983=)]

NM_032444.4(SLX4):c.2949C>T (p.Tyr983=)

Gene:
SLX4:SLX4 structure-specific endonuclease subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_032444.4(SLX4):c.2949C>T (p.Tyr983=)
HGVS:
  • NC_000016.10:g.3590689G>A
  • NG_028123.1:g.25896C>T
  • NM_032444.4:c.2949C>TMANE SELECT
  • NP_115820.2:p.Tyr983=
  • LRG_503t1:c.2949C>T
  • LRG_503:g.25896C>T
  • NC_000016.9:g.3640690G>A
  • NM_032444.2:c.2949C>T
Links:
dbSNP: rs758944750
NCBI 1000 Genomes Browser:
rs758944750
Molecular consequence:
  • NM_032444.4:c.2949C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001364654Leiden Open Variation Database
no assertion criteria provided
Likely benign
(Aug 31, 2012)
germlinecuration

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Analysis of the novel fanconi anemia gene SLX4/FANCP in familial breast cancer cases.

Bakker JL, van Mil SE, Crossan G, Sabbaghian N, De Leeneer K, Poppe B, Adank M, Gille H, Verheul H, Meijers-Heijboer H, de Winter JP, Claes K, Tischkowitz M, Waisfisz Q.

Hum Mutat. 2013 Jan;34(1):70-3. doi: 10.1002/humu.22206. Epub 2012 Oct 11.

PubMed [citation]
PMID:
22911665

Details of each submission

From Leiden Open Variation Database, SCV001364654.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.

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

Last Updated: Sep 29, 2024