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NM_031433.4(MFRP):c.971A>G (p.Gln324Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 26, 2016
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:
RCV000426299.9

Allele description [Variation Report for NM_031433.4(MFRP):c.971A>G (p.Gln324Arg)]

NM_031433.4(MFRP):c.971A>G (p.Gln324Arg)

Genes:
C1QTNF5:C1q and TNF related 5 [Gene - OMIM - HGNC]
MFRP:membrane frizzled-related protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_031433.4(MFRP):c.971A>G (p.Gln324Arg)
HGVS:
  • NC_000011.10:g.119344319T>C
  • NG_012235.1:g.7355A>G
  • NM_015645.5:c.-1666A>G
  • NM_031433.4:c.971A>GMANE SELECT
  • NP_113621.1:p.Gln324Arg
  • NC_000011.9:g.119215029T>C
  • NM_015645.4:c.-1666A>G
  • NM_031433.2:c.971A>G
  • NM_031433.3:c.971A>G
Protein change:
Q324R
Links:
dbSNP: rs142198552
NCBI 1000 Genomes Browser:
rs142198552
Molecular consequence:
  • NM_015645.5:c.-1666A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_031433.4:c.971A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000528446GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(May 26, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000528446.3

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

Description

The Q324R variant in the MFRP gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The Q324R variant was not observed at any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Q324R variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved across species, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret Q324R as a variant of uncertain significance.

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

Last Updated: Nov 10, 2024