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NM_001370466.1(NOD2):c.2702G>A (p.Ser901Asn) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 15, 2020
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:
RCV001810603.13

Allele description [Variation Report for NM_001370466.1(NOD2):c.2702G>A (p.Ser901Asn)]

NM_001370466.1(NOD2):c.2702G>A (p.Ser901Asn)

Gene:
NOD2:nucleotide binding oligomerization domain containing 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q12.1
Genomic location:
Preferred name:
NM_001370466.1(NOD2):c.2702G>A (p.Ser901Asn)
HGVS:
  • NC_000016.10:g.50722690G>A
  • NG_007508.1:g.30552G>A
  • NM_001293557.2:c.2702G>A
  • NM_001370466.1:c.2702G>AMANE SELECT
  • NM_022162.3:c.2783G>A
  • NP_001280486.1:p.Ser901Asn
  • NP_001357395.1:p.Ser901Asn
  • NP_071445.1:p.Ser928Asn
  • LRG_177:g.30552G>A
  • NC_000016.9:g.50756601G>A
  • NR_163434.1:n.2914G>A
Protein change:
S901N
Links:
dbSNP: rs772064514
NCBI 1000 Genomes Browser:
rs772064514
Molecular consequence:
  • NM_001293557.2:c.2702G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370466.1:c.2702G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022162.3:c.2783G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_163434.1:n.2914G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001474378ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Uncertain significance
(Jul 15, 2020) 		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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001474378.1

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

Description

The NOD2 c.2783G>A; p.Ser928Asn variant (rs772064514), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. The serine at codon 928 is moderately conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Ser928Asn variant is uncertain at this time.

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

Last Updated: Oct 8, 2024