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NM_018124.4(RFWD3):c.1212G>A (p.Thr404=) AND Fanconi anemia, complementation group W

Germline classification:
Benign (1 submission)
Last evaluated:
Nov 7, 2021
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:
RCV001794900.2

Allele description [Variation Report for NM_018124.4(RFWD3):c.1212G>A (p.Thr404=)]

NM_018124.4(RFWD3):c.1212G>A (p.Thr404=)

Gene:
RFWD3:ring finger and WD repeat domain 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q23.1
Genomic location:
Preferred name:
NM_018124.4(RFWD3):c.1212G>A (p.Thr404=)
HGVS:
  • NC_000016.10:g.74636560C>T
  • NM_001370534.1:c.1212G>A
  • NM_001370535.1:c.1212G>A
  • NM_001370536.1:c.1212G>A
  • NM_001370537.1:c.378G>A
  • NM_001370539.1:c.378G>A
  • NM_001370540.1:c.378G>A
  • NM_001370542.1:c.378G>A
  • NM_001370543.1:c.378G>A
  • NM_018124.4:c.1212G>AMANE SELECT
  • NP_001357463.1:p.Thr404=
  • NP_001357464.1:p.Thr404=
  • NP_001357465.1:p.Thr404=
  • NP_001357466.1:p.Thr126=
  • NP_001357468.1:p.Thr126=
  • NP_001357469.1:p.Thr126=
  • NP_001357471.1:p.Thr126=
  • NP_001357472.1:p.Thr126=
  • NP_060594.3:p.Thr404=
  • NC_000016.9:g.74670458C>T
Links:
dbSNP: rs4888262
NCBI 1000 Genomes Browser:
rs4888262
Molecular consequence:
  • NM_001370534.1:c.1212G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370535.1:c.1212G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370536.1:c.1212G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370537.1:c.378G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370539.1:c.378G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370540.1:c.378G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370542.1:c.378G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370543.1:c.378G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_018124.4:c.1212G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Fanconi anemia, complementation group W
Identifiers:
MONDO: MONDO:0044325; MedGen: C4521564; OMIM: 617784

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002033583Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Nov 7, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV002033583.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024