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NM_000135.4(FANCA):c.989_995del (p.His330fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
May 26, 2017
Accession:
VCV000551896.1
Variation ID:
551896
Description:
7bp deletion
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NM_000135.4(FANCA):c.989_995del (p.His330fs)

Allele ID
547949
Variant type
Deletion
Variant length
7 bp
Cytogenetic location
16q24.3
Genomic location
16: 89795917-89795923 (GRCh38) GRCh38 UCSC
16: 89862325-89862331 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.89795918_89795924del
NC_000016.9:g.89862326_89862332del
NM_000135.4:c.989_995del MANE Select NP_000126.2:p.His330fs frameshift
... more HGVS
Protein change
H330fs
Other names
-
Canonical SPDI
NC_000016.10:89795916:GGGCTGTG:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555564451
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter May 26, 2017 RCV000667063.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FANCA - - GRCh38
GRCh37
2154 2645

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 26, 2017)
criteria provided, single submitter
Method: clinical testing
Fanconi anemia, complementation group A
Allele origin: unknown
Counsyl
Accession: SCV000791456.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Molecular defects identified by whole exome sequencing in a child with Fanconi anemia. Zheng Z Gene 2013 PMID: 23973728

Text-mined citations for rs1555564451...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jan 25, 2021