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NM_006687.4(ACTL7A):c.149_150del (p.Glu50fs) AND Male infertility with normal semen parameters

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001845046.1

Allele description [Variation Report for NM_006687.4(ACTL7A):c.149_150del (p.Glu50fs)]

NM_006687.4(ACTL7A):c.149_150del (p.Glu50fs)

Gene:
ACTL7A:actin like 7A [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
9q31.3
Genomic location:
Preferred name:
NM_006687.4(ACTL7A):c.149_150del (p.Glu50fs)
HGVS:
  • NC_000009.12:g.108862469AG[1]
  • NM_006687.4:c.149_150delMANE SELECT
  • NP_006678.1:p.Glu50fs
  • NC_000009.11:g.111624749AG[1]
  • NM_006687.4:c.149_150delAGMANE SELECT
Protein change:
E50fs
Links:
dbSNP: rs745719906
NCBI 1000 Genomes Browser:
rs745719906
Molecular consequence:
  • NM_006687.4:c.149_150del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Male infertility with normal semen parameters
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002104241Molecular and Cell Genetics Laboratory, University of Science and Technology of China
no assertion criteria provided
Pathogenicinheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Molecular and Cell Genetics Laboratory, University of Science and Technology of China, SCV002104241.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023