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NM_178821.3(DAW1):c.721C>T (p.His241Tyr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 1, 2023
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:
RCV004253333.1

Allele description [Variation Report for NM_178821.3(DAW1):c.721C>T (p.His241Tyr)]

NM_178821.3(DAW1):c.721C>T (p.His241Tyr)

Gene:
DAW1:dynein assembly factor with WD repeats 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q36.3
Genomic location:
Preferred name:
NM_178821.3(DAW1):c.721C>T (p.His241Tyr)
HGVS:
  • NC_000002.12:g.227905001C>T
  • NM_001330004.2:c.676C>T
  • NM_178821.3:c.721C>TMANE SELECT
  • NP_001316933.1:p.His226Tyr
  • NP_849143.1:p.His241Tyr
  • NC_000002.11:g.228769717C>T
  • NM_178821.1:c.721C>T
  • NR_138459.2:n.780C>T
Protein change:
H226Y
Molecular consequence:
  • NM_001330004.2:c.676C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178821.3:c.721C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_138459.2:n.780C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003879663Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 1, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003879663.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.721C>T (p.H241Y) alteration is located in exon 8 (coding exon 8) of the DAW1 gene. This alteration results from a C to T substitution at nucleotide position 721, causing the histidine (H) at amino acid position 241 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 26, 2024