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NM_207582.3(ERVFRD-1):c.347A>G (p.Asn116Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 14, 2021
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:
RCV004200468.1

Allele description [Variation Report for NM_207582.3(ERVFRD-1):c.347A>G (p.Asn116Ser)]

NM_207582.3(ERVFRD-1):c.347A>G (p.Asn116Ser)

Genes:
ERVFRD-1:endogenous retrovirus group FRD member 1, envelope [Gene - OMIM - HGNC]
SMIM13:small integral membrane protein 13 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.2
Genomic location:
Preferred name:
NM_207582.3(ERVFRD-1):c.347A>G (p.Asn116Ser)
HGVS:
  • NC_000006.12:g.11104964T>C
  • NM_001135575.2:c.76+10575T>CMANE SELECT
  • NM_207582.3:c.347A>GMANE SELECT
  • NP_997465.1:p.Asn116Ser
  • NC_000006.11:g.11105197T>C
  • NM_207582.2:c.347A>G
Protein change:
N116S
Molecular consequence:
  • NM_001135575.2:c.76+10575T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_207582.3:c.347A>G - 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
SCV003710965Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 14, 2021) 		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, SCV003710965.2

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

Description

The c.347A>G (p.N116S) alteration is located in exon 2 (coding exon 1) of the ERVFRD-1 gene. This alteration results from a A to G substitution at nucleotide position 347, causing the asparagine (N) at amino acid position 116 to be replaced by a serine (S). 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: Nov 10, 2024