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NM_003332.4(TYROBP):c.96T>A (p.Asp32Glu) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 14, 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:
RCV004042124.1

Allele description [Variation Report for NM_003332.4(TYROBP):c.96T>A (p.Asp32Glu)]

NM_003332.4(TYROBP):c.96T>A (p.Asp32Glu)

Gene:
TYROBP:transmembrane immune signaling adaptor TYROBP [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.12
Genomic location:
Preferred name:
NM_003332.4(TYROBP):c.96T>A (p.Asp32Glu)
HGVS:
  • NC_000019.10:g.35907579A>T
  • NG_009304.1:g.5706T>A
  • NM_001173514.2:c.63T>A
  • NM_001173515.2:c.63T>A
  • NM_003332.3:c.96T>A
  • NM_003332.4:c.96T>AMANE SELECT
  • NM_198125.3:c.96T>A
  • NP_001166985.1:p.Asp21Glu
  • NP_001166986.1:p.Asp21Glu
  • NP_003323.1:p.Asp32Glu
  • NP_937758.1:p.Asp32Glu
  • LRG_607t1:c.96T>A
  • LRG_607:g.5706T>A
  • NC_000019.9:g.36398481A>T
  • NR_033390.2:n.123T>A
Protein change:
D21E
Links:
dbSNP: rs138901102
NCBI 1000 Genomes Browser:
rs138901102
Molecular consequence:
  • NM_001173514.2:c.63T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173515.2:c.63T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003332.4:c.96T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198125.3:c.96T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_033390.2:n.123T>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
SCV004973673Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Nov 14, 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, SCV004973673.1

#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