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NM_203459.4(CAMSAP2):c.4102A>C (p.Asn1368His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 17, 2023
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:
RCV004434718.1

Allele description [Variation Report for NM_203459.4(CAMSAP2):c.4102A>C (p.Asn1368His)]

NM_203459.4(CAMSAP2):c.4102A>C (p.Asn1368His)

Gene:
CAMSAP2:calmodulin regulated spectrin associated protein family member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.1
Genomic location:
Preferred name:
NM_203459.4(CAMSAP2):c.4102A>C (p.Asn1368His)
HGVS:
  • NC_000001.11:g.200857395A>C
  • NM_001297707.3:c.4135A>C
  • NM_001297708.3:c.4054A>C
  • NM_001389638.1:c.4087A>C
  • NM_203459.4:c.4102A>CMANE SELECT
  • NP_001284636.1:p.Asn1379His
  • NP_001284637.1:p.Asn1352His
  • NP_001376567.1:p.Asn1363His
  • NP_982284.1:p.Asn1368His
  • NC_000001.10:g.200826523A>C
  • NM_203459.1:c.4102A>C
Protein change:
N1352H
Molecular consequence:
  • NM_001297707.3:c.4135A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001297708.3:c.4054A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001389638.1:c.4087A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_203459.4:c.4102A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004918146Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 17, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004918146.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.4102A>C (p.N1368H) alteration is located in exon 16 (coding exon 16) of the CAMSAP2 gene. This alteration results from a A to C substitution at nucleotide position 4102, causing the asparagine (N) at amino acid position 1368 to be replaced by a histidine (H). 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: May 7, 2024