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NM_003227.4(TFR2):c.523C>G (p.Leu175Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 10, 2023
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:
RCV003375715.2

Allele description [Variation Report for NM_003227.4(TFR2):c.523C>G (p.Leu175Val)]

NM_003227.4(TFR2):c.523C>G (p.Leu175Val)

Gene:
TFR2:transferrin receptor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q22.1
Genomic location:
Preferred name:
NM_003227.4(TFR2):c.523C>G (p.Leu175Val)
HGVS:
  • NC_000007.14:g.100633507G>C
  • NG_007989.1:g.13044C>G
  • NM_001206855.3:c.10C>G
  • NM_003227.3:c.523C>G
  • NM_003227.4:c.523C>GMANE SELECT
  • NP_001193784.1:p.Leu4Val
  • NP_003218.2:p.Leu175Val
  • NC_000007.13:g.100231130G>C
Protein change:
L175V
Molecular consequence:
  • NM_001206855.3:c.10C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003227.4:c.523C>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004065311Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 10, 2023) 		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, SCV004065311.2

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

Description

The c.523C>G (p.L175V) alteration is located in exon 4 (coding exon 4) of the TFR2 gene. This alteration results from a C to G substitution at nucleotide position 523, causing the leucine (L) at amino acid position 175 to be replaced by a valine (V). 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