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NM_144975.4(SLFN5):c.2189G>A (p.Arg730Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 11, 2023
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:
RCV004457309.1

Allele description [Variation Report for NM_144975.4(SLFN5):c.2189G>A (p.Arg730Gln)]

NM_144975.4(SLFN5):c.2189G>A (p.Arg730Gln)

Gene:
SLFN5:schlafen family member 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_144975.4(SLFN5):c.2189G>A (p.Arg730Gln)
HGVS:
  • NC_000017.11:g.35265401G>A
  • NM_001330183.2:c.*298G>A
  • NM_144975.4:c.2189G>AMANE SELECT
  • NP_659412.3:p.Arg730Gln
  • NC_000017.10:g.33592420G>A
  • NM_144975.3:c.2189G>A
Protein change:
R730Q
Molecular consequence:
  • NM_001330183.2:c.*298G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_144975.4:c.2189G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004952056Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 11, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004952056.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.2189G>A (p.R730Q) alteration is located in exon 5 (coding exon 4) of the SLFN5 gene. This alteration results from a G to A substitution at nucleotide position 2189, causing the arginine (R) at amino acid position 730 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024