U.S. flag

An official website of the United States government

NM_080669.6(SLC46A1):c.1334del (p.Lys445fs) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 11, 2022
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:
RCV002470144.1

Allele description [Variation Report for NM_080669.6(SLC46A1):c.1334del (p.Lys445fs)]

NM_080669.6(SLC46A1):c.1334del (p.Lys445fs)

Genes:
SLC46A1:solute carrier family 46 member 1 [Gene - OMIM - HGNC]
SARM1:sterile alpha and TIR motif containing 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
NM_080669.6(SLC46A1):c.1334del (p.Lys445fs)
HGVS:
  • NC_000017.11:g.28399705del
  • NG_013306.1:g.11510del
  • NM_001242366.3:c.1250del
  • NM_015077.4:c.*3419delMANE SELECT
  • NM_080669.6:c.1334delMANE SELECT
  • NP_001229295.1:p.Lys417fs
  • NP_542400.2:p.Lys445Argfs
  • NP_542400.2:p.Lys445fs
  • LRG_183t1:c.1331del
  • LRG_183:g.11510del
  • LRG_183p1:p.Lys445Argfs
  • NC_000017.10:g.26726721del
  • NM_080669.3:c.1331delA
  • NM_080669.5:c.1334delA
Protein change:
K417fs
Molecular consequence:
  • NM_015077.4:c.*3419del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001242366.3:c.1250del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_080669.6:c.1334del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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
SCV002766492Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Nov 11, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002766492.1

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

Description

Variant summary: SLC46A1 c.1334delA (p.Lys445ArgfsX52) causes a frameshift which results in an extension of the protein. Extensions of this protein have not been classified pathogenic in ClinVar. The variant was absent in 248472 control chromosomes (gnomAD). To our knowledge, no occurrence of c.1334delA in individuals affected with Congenital Defect Of Folate Absorption and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Sep 1, 2024