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NM_016174.5(CERCAM):c.224A>G (p.Asn75Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 3, 2022
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:
RCV004159224.1

Allele description [Variation Report for NM_016174.5(CERCAM):c.224A>G (p.Asn75Ser)]

NM_016174.5(CERCAM):c.224A>G (p.Asn75Ser)

Gene:
CERCAM:cerebral endothelial cell adhesion molecule [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_016174.5(CERCAM):c.224A>G (p.Asn75Ser)
HGVS:
  • NC_000009.12:g.128422894A>G
  • NM_001286760.1:c.-11A>G
  • NM_016174.5:c.224A>GMANE SELECT
  • NP_057258.3:p.Asn75Ser
  • NC_000009.11:g.131185173A>G
  • NM_016174.4:c.224A>G
Protein change:
N75S
Molecular consequence:
  • NM_001286760.1:c.-11A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_016174.5:c.224A>G - 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
SCV003651219Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 3, 2022) 		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, SCV003651219.2

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

Description

The c.224A>G (p.N75S) alteration is located in exon 2 (coding exon 2) of the CERCAM gene. This alteration results from a A to G substitution at nucleotide position 224, causing the asparagine (N) at amino acid position 75 to be replaced by a serine (S). 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: Nov 3, 2024