U.S. flag

An official website of the United States government

NM_001122630.2(CDKN1C):c.574_575insACCCGG (p.Pro191_Ala192insAspPro) AND Beckwith-Wiedemann syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 24, 2018
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:
RCV001410418.12

Allele description [Variation Report for NM_001122630.2(CDKN1C):c.574_575insACCCGG (p.Pro191_Ala192insAspPro)]

NM_001122630.2(CDKN1C):c.574_575insACCCGG (p.Pro191_Ala192insAspPro)

Gene:
CDKN1C:cyclin dependent kinase inhibitor 1C [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_001122630.2(CDKN1C):c.574_575insACCCGG (p.Pro191_Ala192insAspPro)
HGVS:
  • NC_000011.10:g.2884887_2884888insTCCGGG
  • NG_008022.1:g.5883_5884insACCCGG
  • NM_000076.2:c.607_608insACCCGG
  • NM_001122630.2:c.574_575insACCCGGMANE SELECT
  • NM_001122631.2:c.574_575insACCCGG
  • NM_001362474.2:c.607_608insACCCGG
  • NM_001362475.2:c.255+319_255+320insCCCGGA
  • NP_000067.1:p.Pro202_Ala203insAspPro
  • NP_001116102.1:p.Pro191_Ala192insAspPro
  • NP_001116103.1:p.Pro191_Ala192insAspPro
  • NP_001349403.1:p.Pro202_Ala203insAspPro
  • LRG_533t1:c.607_608insACCCGG
  • LRG_533:g.5883_5884insACCCGG
  • LRG_533p1:p.Pro202_Ala203insAspPro
  • NC_000011.9:g.2906112_2906113insCCGGGT
  • NC_000011.9:g.2906117_2906118insTCCGGG
Links:
dbSNP: rs1590149612
NCBI 1000 Genomes Browser:
rs1590149612
Molecular consequence:
  • NM_000076.2:c.607_608insACCCGG - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001122630.2:c.574_575insACCCGG - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001122631.2:c.574_575insACCCGG - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001362474.2:c.607_608insACCCGG - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001362475.2:c.255+319_255+320insCCCGGA - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Beckwith-Wiedemann syndrome (BWS)
Synonyms:
Exomphalos macroglossia gigantism syndrome; EMG Syndrome
Identifiers:
MONDO: MONDO:0007534; MedGen: C0004903; Orphanet: 116; OMIM: 130650

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
SCV001612464Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely benign
(Jan 24, 2018) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001612464.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 8, 2024