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NM_015158.5(KANK1):c.3996G>A (p.Pro1332=) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 20, 2024
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:
RCV004040019.1

Allele description [Variation Report for NM_015158.5(KANK1):c.3996G>A (p.Pro1332=)]

NM_015158.5(KANK1):c.3996G>A (p.Pro1332=)

Gene:
KANK1:KN motif and ankyrin repeat domains 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p24.3
Genomic location:
Preferred name:
NM_015158.5(KANK1):c.3996G>A (p.Pro1332=)
HGVS:
  • NC_000009.12:g.744589G>A
  • NG_016331.2:g.279296G>A
  • NM_001256876.3:c.3996G>A
  • NM_001256877.3:c.3996G>A
  • NM_001354331.2:c.3756G>A
  • NM_001354332.2:c.3942G>A
  • NM_001354333.2:c.3522G>A
  • NM_001354334.2:c.3996G>A
  • NM_001354335.2:c.3522G>A
  • NM_001354336.2:c.3228G>A
  • NM_001354337.2:c.3522G>A
  • NM_001354338.2:c.3468G>A
  • NM_001354339.2:c.3282G>A
  • NM_001354340.2:c.3468G>A
  • NM_001354341.2:c.3522G>A
  • NM_001354342.2:c.3282G>A
  • NM_001354343.2:c.3282G>A
  • NM_001354344.2:c.3468G>A
  • NM_015158.5:c.3996G>AMANE SELECT
  • NM_153186.6:c.3522G>A
  • NP_001243805.1:p.Pro1332=
  • NP_001243806.1:p.Pro1332=
  • NP_001341260.1:p.Pro1252=
  • NP_001341261.1:p.Pro1314=
  • NP_001341262.1:p.Pro1174=
  • NP_001341263.1:p.Pro1332=
  • NP_001341264.1:p.Pro1174=
  • NP_001341265.1:p.Pro1076=
  • NP_001341266.1:p.Pro1174=
  • NP_001341267.1:p.Pro1156=
  • NP_001341268.1:p.Pro1094=
  • NP_001341269.1:p.Pro1156=
  • NP_001341270.1:p.Pro1174=
  • NP_001341271.1:p.Pro1094=
  • NP_001341272.1:p.Pro1094=
  • NP_001341273.1:p.Pro1156=
  • NP_055973.2:p.Pro1332=
  • NP_694856.1:p.Pro1174=
  • NC_000009.11:g.744589G>A
  • NM_015158.2:c.3996G>A
  • NR_148869.2:n.4124G>A
Links:
dbSNP: rs115382946
NCBI 1000 Genomes Browser:
rs115382946
Molecular consequence:
  • NR_148869.2:n.4124G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001256876.3:c.3996G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001256877.3:c.3996G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354331.2:c.3756G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354332.2:c.3942G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354333.2:c.3522G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354334.2:c.3996G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354335.2:c.3522G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354336.2:c.3228G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354337.2:c.3522G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354338.2:c.3468G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354339.2:c.3282G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354340.2:c.3468G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354341.2:c.3522G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354342.2:c.3282G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354343.2:c.3282G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354344.2:c.3468G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_015158.5:c.3996G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_153186.6:c.3522G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004889068Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 20, 2024) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

Smith ED, Radtke K, Rossi M, Shinde DN, Darabi S, El-Khechen D, Powis Z, Helbig K, Waller K, Grange DK, Tang S, Farwell Hagman KD.

Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.

PubMed [citation]
PMID:
28106320
PMCID:
PMC5655771

Details of each submission

From Ambry Genetics, SCV004889068.1

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

Description

Occurs in the last base pair of the exon; Does not currently meet published gene-disease clinical validity criteria Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024