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NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp) AND not specified

Germline classification:
Likely benign (3 submissions)
Last evaluated:
May 10, 2017
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:
RCV000500511.9

Allele description [Variation Report for NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp)]

NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp)

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.4648C>T (p.Arg1550Trp)
HGVS:
  • NC_000016.10:g.3584860G>A
  • NG_028123.1:g.31725C>T
  • NM_032444.4:c.4648C>TMANE SELECT
  • NP_115820.2:p.Arg1550Trp
  • LRG_503t1:c.4648C>T
  • LRG_503:g.31725C>T
  • NC_000016.9:g.3634861G>A
  • NM_032444.2:c.4648C>T
  • Q8IY92:p.Arg1550Trp
Protein change:
R1550W
Links:
UniProtKB: Q8IY92#VAR_069014; dbSNP: rs77021998
NCBI 1000 Genomes Browser:
rs77021998
Molecular consequence:
  • NM_032444.4:c.4648C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000597132Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely benign
(May 27, 2016)
germlineclinical testing

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

SCV000708492Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Likely benign
(May 10, 2017)
germlineclinical testing

Citation Link,

SCV001364698Leiden 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 providedgermlinenonot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedcuration
not providedgermlineunknown1not providednot providednot providednot providedclinical 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

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 Genetic Services Laboratory, University of Chicago, SCV000597132.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

From Eurofins Ntd Llc (ga), SCV000708492.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Leiden Open Variation Database, SCV001364698.1

#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: Oct 20, 2024