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NM_001770.6(CD19):c.1417G>A (p.Ala473Thr) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 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:
RCV004041550.1

Allele description [Variation Report for NM_001770.6(CD19):c.1417G>A (p.Ala473Thr)]

NM_001770.6(CD19):c.1417G>A (p.Ala473Thr)

Gene:
CD19:CD19 molecule [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p11.2
Genomic location:
Preferred name:
NM_001770.6(CD19):c.1417G>A (p.Ala473Thr)
HGVS:
  • NC_000016.10:g.28937668G>A
  • NG_007275.1:g.10730G>A
  • NM_001178098.2:c.1417G>A
  • NM_001385732.1:c.1150G>A
  • NM_001770.6:c.1417G>AMANE SELECT
  • NP_001171569.1:p.Ala473Thr
  • NP_001372661.1:p.Ala384Thr
  • NP_001761.3:p.Ala473Thr
  • LRG_35t1:c.1417G>A
  • LRG_35:g.10730G>A
  • NC_000016.9:g.28948989G>A
  • NM_001770.5:c.1417G>A
  • NR_169755.1:n.1759G>A
Protein change:
A384T
Links:
dbSNP: rs747855991
NCBI 1000 Genomes Browser:
rs747855991
Molecular consequence:
  • NM_001178098.2:c.1417G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385732.1:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001770.6:c.1417G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_169755.1:n.1759G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV004921798Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Nov 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, SCV004921798.1

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024