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NM_144975.4(SLFN5):c.2455C>T (p.Leu819Phe) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 14, 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:
RCV004457310.1

Allele description [Variation Report for NM_144975.4(SLFN5):c.2455C>T (p.Leu819Phe)]

NM_144975.4(SLFN5):c.2455C>T (p.Leu819Phe)

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.2455C>T (p.Leu819Phe)
HGVS:
  • NC_000017.11:g.35265667C>T
  • NM_001330183.2:c.*564C>T
  • NM_144975.4:c.2455C>TMANE SELECT
  • NP_659412.3:p.Leu819Phe
  • NC_000017.10:g.33592686C>T
  • NM_144975.3:c.2455C>T
Protein change:
L819F
Molecular consequence:
  • NM_001330183.2:c.*564C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_144975.4:c.2455C>T - 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
SCV004952057Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 14, 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, SCV004952057.1

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

Description

The c.2455C>T (p.L819F) alteration is located in exon 5 (coding exon 4) of the SLFN5 gene. This alteration results from a C to T substitution at nucleotide position 2455, causing the leucine (L) at amino acid position 819 to be replaced by a phenylalanine (F). 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