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NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys) AND Inborn genetic diseases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 28, 2016
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:
RCV001266398.2

Allele description [Variation Report for NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys)]

NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys)

Gene:
EBF3:EBF transcription factor 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q26.3
Genomic location:
Preferred name:
NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys)
Other names:
NM_001375380.1(EBF3):c.422A>G; p.Tyr141Cys
HGVS:
  • NC_000010.11:g.129958997T>C
  • NG_030038.1:g.9831A>G
  • NM_001005463.3:c.422A>G
  • NM_001375379.1:c.422A>G
  • NM_001375380.1:c.422A>GMANE SELECT
  • NM_001375389.1:c.422A>G
  • NM_001375390.1:c.422A>G
  • NM_001375391.1:c.422A>G
  • NM_001375392.1:c.422A>G
  • NP_001005463.1:p.Tyr141Cys
  • NP_001362308.1:p.Tyr141Cys
  • NP_001362309.1:p.Tyr141Cys
  • NP_001362318.1:p.Tyr141Cys
  • NP_001362319.1:p.Tyr141Cys
  • NP_001362320.1:p.Tyr141Cys
  • NP_001362321.1:p.Tyr141Cys
  • NC_000010.10:g.131757261T>C
  • NM_001005463.2:c.422A>G
Protein change:
Y141C; TYR141CYS
Links:
OMIM: 607407.0004; dbSNP: rs1057519519
NCBI 1000 Genomes Browser:
rs1057519519
Molecular consequence:
  • NM_001005463.3:c.422A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375379.1:c.422A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375380.1:c.422A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375389.1:c.422A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375390.1:c.422A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375391.1:c.422A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375392.1:c.422A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001444572Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Likely pathogenic
(Dec 28, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV001444572.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2024