U.S. flag

An official website of the United States government

NM_001101.5(ACTB):c.364-4_364-3insAA AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 1, 2022
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:
RCV002263433.16

Allele description [Variation Report for NM_001101.5(ACTB):c.364-4_364-3insAA]

NM_001101.5(ACTB):c.364-4_364-3insAA

Gene:
ACTB:actin beta [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
7p22.1
Genomic location:
Preferred name:
NM_001101.5(ACTB):c.364-4_364-3insAA
HGVS:
  • NC_000007.14:g.5528723_5528724insTT
  • NG_007992.1:g.6879_6880insAA
  • NM_001101.5:c.364-4_364-3insAAMANE SELECT
  • LRG_132:g.6879_6880insAA
  • NC_000007.13:g.5568353_5568354insTT
  • NC_000007.13:g.5568354_5568355insTT
Links:
dbSNP: rs751359436
NCBI 1000 Genomes Browser:
rs751359436
Molecular consequence:
  • NM_001101.5:c.364-4_364-3insAA - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002545492CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV002545492.16

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

ACTB: BP4

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024