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NM_001101.5(ACTB):c.179G>A (p.Ser60Asn) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 18, 2019
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:
RCV000790625.2

Allele description [Variation Report for NM_001101.5(ACTB):c.179G>A (p.Ser60Asn)]

NM_001101.5(ACTB):c.179G>A (p.Ser60Asn)

Gene:
ACTB:actin beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p22.1
Genomic location:
Preferred name:
NM_001101.5(ACTB):c.179G>A (p.Ser60Asn)
HGVS:
  • NC_000007.14:g.5529345C>T
  • NG_007992.1:g.6257G>A
  • NM_001101.5:c.179G>AMANE SELECT
  • NP_001092.1:p.Ser60Asn
  • LRG_132t1:c.179G>A
  • LRG_132:g.6257G>A
  • NC_000007.13:g.5568976C>T
  • NM_001101.3:c.179G>A
Protein change:
S60N
Links:
dbSNP: rs755437923
NCBI 1000 Genomes Browser:
rs755437923
Molecular consequence:
  • NM_001101.5:c.179G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Short stature
Identifiers:
MedGen: C0349588; Human Phenotype Ontology: HP:0004322
Name:
Microcephaly
Synonyms:
Microcephaly (disease)
Identifiers:
MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252
Name:
Abnormal brain morphology
Synonyms:
Abnormality of brain morphology
Identifiers:
MedGen: C4021085; Human Phenotype Ontology: HP:0012443

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000928330Institute of Human Genetics, University of Goettingen
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jun 18, 2019) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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 Institute of Human Genetics, University of Goettingen, SCV000928330.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

De novo mutation occurring in trio, exome sequencing without any hint for presence in gnomAD; mutation affects highly conserved amino acid in the protein domain of ACTB, all prediction program classified variant to damaging for protein function.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 11, 2023