U.S. flag

An official website of the United States government

NM_005720.4(ARPC1B):c.311G>C (p.Trp104Ser) AND not provided

Germline classification:
Likely pathogenic (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:
RCV002263448.15

Allele description

NM_005720.4(ARPC1B):c.311G>C (p.Trp104Ser)

Gene:
ARPC1B:actin related protein 2/3 complex subunit 1B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q22.1
Genomic location:
Preferred name:
NM_005720.4(ARPC1B):c.311G>C (p.Trp104Ser)
HGVS:
  • NC_000007.14:g.99388180G>C
  • NG_055676.1:g.18506G>C
  • NM_005720.4:c.311G>CMANE SELECT
  • NP_005711.1:p.Trp104Ser
  • LRG_1188t1:c.311G>C
  • LRG_1188:g.18506G>C
  • LRG_1188p1:p.Trp104Ser
  • NC_000007.13:g.98985803G>C
Protein change:
W104S
Links:
dbSNP: rs2150894118
NCBI 1000 Genomes Browser:
rs2150894118
Molecular consequence:
  • NM_005720.4:c.311G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

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
SCV002545531CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Likely pathogenic
(Jun 1, 2022) 		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, SCV002545531.15

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 8, 2024