NM_013275.6(ANKRD11):c.3822C>T (p.Ala1274=) AND KBG syndrome

Clinical significance:Benign (Last evaluated: Nov 16, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001511267.1

Allele description [Variation Report for NM_013275.6(ANKRD11):c.3822C>T (p.Ala1274=)]

NM_013275.6(ANKRD11):c.3822C>T (p.Ala1274=)

Gene:
ANKRD11:ankyrin repeat domain 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_013275.6(ANKRD11):c.3822C>T (p.Ala1274=)
HGVS:
  • NC_000016.10:g.89282720G>A
  • NG_032003.1:g.212842C>T
  • NG_032003.2:g.212842C>T
  • NM_001256182.2:c.3822C>T
  • NM_001256183.2:c.3822C>T
  • NM_013275.6:c.3822C>TMANE SELECT
  • NP_001243111.1:p.Ala1274=
  • NP_001243112.1:p.Ala1274=
  • NP_037407.4:p.Ala1274=
  • NC_000016.9:g.89349128G>A
  • NM_001256182.1:c.3822C>T
  • NM_013275.4:c.3822C>T
  • NM_013275.5:c.3822C>T
  • p.Ala1274Ala
Links:
dbSNP: rs61741725
NCBI 1000 Genomes Browser:
rs61741725
Molecular consequence:
  • NM_001256182.2:c.3822C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001256183.2:c.3822C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_013275.6:c.3822C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
KBG syndrome (KBGS)
Synonyms:
Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies
Identifiers:
MONDO: MONDO:0007846; MedGen: C0220687; Orphanet: 2332; OMIM: 148050

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001718478Invitaecriteria provided, single submitter
Benign
(Nov 16, 2020)
germlineclinical testing

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

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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001718478.1

#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: Oct 2, 2021

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