U.S. flag

An official website of the United States government

NM_001379081.2(FREM1):c.1640C>G (p.Ala547Gly) AND Congenital anomaly of kidney and urinary tract

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 9, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001328303.1

Allele description [Variation Report for NM_001379081.2(FREM1):c.1640C>G (p.Ala547Gly)]

NM_001379081.2(FREM1):c.1640C>G (p.Ala547Gly)

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.1640C>G (p.Ala547Gly)
HGVS:
  • NC_000009.12:g.14842414G>C
  • NG_017005.2:g.72823C>G
  • NM_001379081.2:c.1640C>GMANE SELECT
  • NM_144966.7:c.1640C>G
  • NP_001366010.1:p.Ala547Gly
  • NP_659403.4:p.Ala547Gly
  • NP_659403.4:p.Ala547Gly
  • NC_000009.11:g.14842412G>C
  • NM_144966.5:c.1640C>G
  • NR_163238.2:n.2456C>G
  • NR_163239.2:n.2400C>G
  • p.A547G
Protein change:
A547G
Links:
dbSNP: rs201056172
NCBI 1000 Genomes Browser:
rs201056172
Molecular consequence:
  • NM_001379081.2:c.1640C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144966.7:c.1640C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_163238.2:n.2456C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_163239.2:n.2400C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Congenital anomaly of kidney and urinary tract
Synonyms:
Congenital anomalies of kidney and urinary tract; Congenital anomalies of the kidney and urinary tract
Identifiers:
MONDO: MONDO:0019719; MeSH: C566906; MedGen: C1968949; OMIM: PS610805

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
SCV001449325Sydney Genome Diagnostics, Children's Hospital Westmead
no assertion criteria provided
Uncertain significance
(Feb 9, 2018) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Sydney Genome Diagnostics, Children's Hospital Westmead, SCV001449325.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This individual is heterozygous for the variant, c.1640C>G p.(Ala547Gly), in the FREM1 gene. To our knowledge, this variant has not been previously reported in the literature or any disease specific databases to be a disease causing variant. This variant has been reported in the gnomAD browser (http://gnomad.broadinstitute.org with a low allele frequency of 0.011% (33 out of 276,800 alleles). In silico analysis of pathogenicity (through Alamut Visual v2.8.1) is inconclusive regarding this change; PolyPhen2 and MutationTaster predicts it to be likely pathogenic whereas SIFT predicts this variant to be benign. This variant is considered to be a variant of uncertain clinical significance (VOUS) according to the ACMG guidelines.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024