NM_031433.4(MFRP):c.971A>G (p.Gln324Arg) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 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:: RCV002520677.9

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)

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

Recent activity

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PREDICTED: Homo sapiens neurobeachin like 1 (NBEAL1), transcript variant X4, mRN...
PREDICTED: Homo sapiens neurobeachin like 1 (NBEAL1), transcript variant X4, mRNA
gi|2217330323|ref|XM_005246787.5|

Nucleotide
neurobeachin-like protein 1 isoform X1 [Homo sapiens]
neurobeachin-like protein 1 isoform X1 [Homo sapiens]
gi|767919312|ref|XP_011509960.1|

Protein
PREDICTED: Homo sapiens neurobeachin like 1 (NBEAL1), transcript variant X2, mRN...
PREDICTED: Homo sapiens neurobeachin like 1 (NBEAL1), transcript variant X2, mRNA
gi|2462576198|ref|XM_054343454.1|

Nucleotide
C-type lectin domain-containing protein [Caenorhabditis elegans]
C-type lectin domain-containing protein [Caenorhabditis elegans]
gi|392901192|ref|NP_001023122.3|

Protein
protein-tyrosine-phosphatase [Caenorhabditis elegans]
protein-tyrosine-phosphatase [Caenorhabditis elegans]
gi|453231838|ref|NP_001263672.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003687321	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 11, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003687321

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 11, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003687321.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.971A>G (p.Q324R) alteration is located in exon 8 (coding exon 8) of the MFRP gene. This alteration results from a A to G substitution at nucleotide position 971, causing the glutamine (Q) at amino acid position 324 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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