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NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
May 1, 2022
Review status:
criteria provided, conflicting classifications
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:
RCV001532104.25

Allele description [Variation Report for NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=)]

NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=)

Genes:
LOC126859961:BRD4-independent group 4 enhancer GRCh37_chr7:21639662-21640861 [Gene]
DNAH11:dynein axonemal heavy chain 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p15.3
Genomic location:
Preferred name:
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=)
HGVS:
  • NC_000007.14:g.21600912T>C
  • NG_012886.2:g.62698T>C
  • NM_001277115.2:c.3237T>CMANE SELECT
  • NP_001264044.1:p.Leu1079=
  • NC_000007.13:g.21640530T>C
  • NM_001277115.1:c.3237T>C
  • NM_003777:c.3237T>C
  • p.Leu1079Leu
Links:
dbSNP: rs72657304
NCBI 1000 Genomes Browser:
rs72657304
Molecular consequence:
  • NM_001277115.2:c.3237T>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001747505CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Likely benign
(May 1, 2022) 		germlineclinical testing

Citation Link,

SCV002028259GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Nov 11, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001747505.20

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided

Description

DNAH11: BP4, BP7

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

From GeneDx, SCV002028259.2

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

Description

In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Oct 20, 2024