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NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 20, 2019
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:
RCV001199189.1

Allele description

NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)

Gene:
FANCA:FA complementation group A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)
HGVS:
  • NC_000016.10:g.89799203G>A
  • NG_011706.1:g.22455C>T
  • NM_000135.4:c.856C>TMANE SELECT
  • NM_001018112.3:c.856C>T
  • NM_001286167.3:c.856C>T
  • NM_001351830.2:c.760C>T
  • NP_000126.2:p.Gln286Ter
  • NP_001018122.1:p.Gln286Ter
  • NP_001273096.1:p.Gln286Ter
  • NP_001338759.1:p.Gln254Ter
  • LRG_495t1:c.856C>T
  • LRG_495:g.22455C>T
  • NC_000016.9:g.89865611G>A
  • NM_000135.2:c.856C>T
Protein change:
Q254*
Links:
dbSNP: rs1291524243
NCBI 1000 Genomes Browser:
rs1291524243
Molecular consequence:
  • NM_000135.4:c.856C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001018112.3:c.856C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001286167.3:c.856C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001351830.2:c.760C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Atrial septal defect (ASD)
Synonyms:
Interatrial communication; Defect in the atrial septum; Atria septal defect; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0006664; MedGen: C0018817; Orphanet: 1478; OMIM: PS108800; Human Phenotype Ontology: HP:0001631
Name:
Absent radius
Synonyms:
absence of radius and ulna; Aplasia of the radius; Radial aplasia; See all synonyms [MedGen]
Identifiers:
MedGen: C1405984; Human Phenotype Ontology: HP:0003974
Name:
Absent thumb
Synonyms:
Absent thumbs; Aplasia of the thumb; Thumb aplasia
Identifiers:
MedGen: C3278811; Human Phenotype Ontology: HP:0009777

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001370198Centre for Mendelian Genomics,University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG guidelines, Richards 2015)		Pathogenic
(Feb 20, 2019) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; et al.

Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.

PubMed [citation]
PMID:
30311386
PMCID:
PMC6188673

Details of each submission

From Centre for Mendelian Genomics,University Medical Centre Ljubljana, SCV001370198.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP5. This variant was detected in heterozygous state.

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

Last Updated: Dec 7, 2020