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NM_138420.4(AHNAK2):c.3336_3337insA (p.Pro1113fs) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000509107.1

Allele description [Variation Report for NM_138420.4(AHNAK2):c.3336_3337insA (p.Pro1113fs)]

NM_138420.4(AHNAK2):c.3336_3337insA (p.Pro1113fs)

Gene:
AHNAK2:AHNAK nucleoprotein 2 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
14q32.33
Genomic location:
Preferred name:
NM_138420.4(AHNAK2):c.3336_3337insA (p.Pro1113fs)
HGVS:
  • NC_000014.9:g.104952114_104952115insT
  • NG_054630.1:g.31243_31244insA
  • NM_001350929.2:c.3036_3037insA
  • NM_138420.4:c.3336_3337insAMANE SELECT
  • NP_001337858.1:p.Pro1013fs
  • NP_612429.2:p.Pro1113fs
  • NC_000014.8:g.105418451_105418452insT
Protein change:
P1013fs
Links:
dbSNP: rs1555402051
NCBI 1000 Genomes Browser:
rs1555402051
Molecular consequence:
  • NM_001350929.2:c.3036_3037insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_138420.4:c.3336_3337insA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000607081GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000607081.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Apr 23, 2022