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NM_001379081.2(FREM1):c.1616T>A (p.Leu539Gln) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 21, 2024
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:
RCV004066201.1

Allele description [Variation Report for NM_001379081.2(FREM1):c.1616T>A (p.Leu539Gln)]

NM_001379081.2(FREM1):c.1616T>A (p.Leu539Gln)

Gene:
FREM1:FRAS1 related extracellular matrix 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p22.3
Genomic location:
Preferred name:
NM_001379081.2(FREM1):c.1616T>A (p.Leu539Gln)
HGVS:
  • NC_000009.12:g.14842438A>T
  • NG_017005.2:g.72799T>A
  • NM_001379081.2:c.1616T>AMANE SELECT
  • NM_144966.5:c.1616T>A
  • NM_144966.7:c.1616T>A
  • NP_001366010.1:p.Leu539Gln
  • NP_659403.4:p.Leu539Gln
  • NC_000009.11:g.14842436A>T
  • NR_163238.2:n.2432T>A
  • NR_163239.2:n.2376T>A
Protein change:
L539Q
Molecular consequence:
  • NM_001379081.2:c.1616T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144966.7:c.1616T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_163238.2:n.2432T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_163239.2:n.2376T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004871994Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 21, 2024) 		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, SCV004871994.1

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

Description

The c.1616T>A (p.L539Q) alteration is located in exon 10 (coding exon 8) of the FREM1 gene. This alteration results from a T to A substitution at nucleotide position 1616, causing the leucine (L) at amino acid position 539 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: Sep 29, 2024