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NM_001006658.3(CR2):c.250T>C (p.Tyr84His) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 17, 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:
RCV003243318.2

Allele description [Variation Report for NM_001006658.3(CR2):c.250T>C (p.Tyr84His)]

NM_001006658.3(CR2):c.250T>C (p.Tyr84His)

Gene:
CR2:complement C3d receptor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.2
Genomic location:
Preferred name:
NM_001006658.3(CR2):c.250T>C (p.Tyr84His)
HGVS:
  • NC_000001.11:g.207466717T>C
  • NG_013006.1:g.17418T>C
  • NM_001006658.3:c.250T>CMANE SELECT
  • NM_001877.5:c.250T>C
  • NP_001006659.1:p.Tyr84His
  • NP_001006659.1:p.Tyr84His
  • NP_001868.2:p.Tyr84His
  • LRG_348t1:c.250T>C
  • LRG_348:g.17418T>C
  • LRG_348p1:p.Tyr84His
  • NC_000001.10:g.207640062T>C
  • NM_001006658.2:c.250T>C
Protein change:
Y84H
Links:
dbSNP: rs1336533629
NCBI 1000 Genomes Browser:
rs1336533629
Molecular consequence:
  • NM_001006658.3:c.250T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001877.5:c.250T>C - 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
SCV003951739Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 17, 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, SCV003951739.2

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

Description

The c.250T>C (p.Y84H) alteration is located in exon 2 (coding exon 2) of the CR2 gene. This alteration results from a T to C substitution at nucleotide position 250, causing the tyrosine (Y) at amino acid position 84 to be replaced by a histidine (H). 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