NM_000135.4(FANCA):c.283+1G>T AND Fanconi anemia, complementation group A

Clinical significance:Likely pathogenic (Last evaluated: Dec 4, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000671233.2

Allele description [Variation Report for NM_000135.4(FANCA):c.283+1G>T]

NM_000135.4(FANCA):c.283+1G>T

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.283+1G>T
HGVS:
  • NC_000016.10:g.89814519C>A
  • NG_011706.1:g.7139G>T
  • NM_000135.4:c.283+1G>TMANE SELECT
  • NM_001018112.3:c.283+1G>T
  • NM_001286167.3:c.283+1G>T
  • NM_001351830.2:c.283+1G>T
  • LRG_495t1:c.283+1G>T
  • LRG_495:g.7139G>T
  • NC_000016.9:g.89880927C>A
  • NM_000135.2:c.283+1G>T
Links:
dbSNP: rs1232171121
NCBI 1000 Genomes Browser:
rs1232171121
Molecular consequence:
  • NM_000135.4:c.283+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001018112.3:c.283+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001286167.3:c.283+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001351830.2:c.283+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Fanconi anemia, complementation group A (FANCA)
Synonyms:
Fanconi anemia, group A
Identifiers:
MONDO: MONDO:0009215; MedGen: C3469521; Orphanet: 84; OMIM: 227650

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000796188Counsylcriteria provided, single submitter
Likely pathogenic
(Dec 4, 2017)
unknownclinical testing

Citation Link,

SCV001425623Leiden Open Variation Databaseno assertion criteria providedPathogenic
(Feb 28, 2020)
germlinecuration

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000796188.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Leiden Open Variation Database, SCV001425623.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Curator: Arleen D. Auerbach. Submitter to LOVD: Sue Richards.

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

Last Updated: Sep 6, 2021

Support Center