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NM_001037132.4(NRCAM):c.2705A>C (p.Lys902Thr) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 6, 2021
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:
RCV002541338.2

Allele description [Variation Report for NM_001037132.4(NRCAM):c.2705A>C (p.Lys902Thr)]

NM_001037132.4(NRCAM):c.2705A>C (p.Lys902Thr)

Gene:
NRCAM:neuronal cell adhesion molecule [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.1
Genomic location:
Preferred name:
NM_001037132.4(NRCAM):c.2705A>C (p.Lys902Thr)
HGVS:
  • NC_000007.14:g.108180369T>G
  • NG_029898.2:g.281349A>C
  • NM_001037132.4:c.2705A>CMANE SELECT
  • NM_001193582.2:c.2705A>C
  • NM_001193583.2:c.2648A>C
  • NM_001193584.2:c.2648A>C
  • NM_001371119.1:c.2648A>C
  • NM_001371122.1:c.2648A>C
  • NM_001371123.1:c.2705A>C
  • NM_001371124.1:c.2648A>C
  • NM_001371125.1:c.2360A>C
  • NM_001371126.1:c.2648A>C
  • NM_001371127.1:c.2702A>C
  • NM_001371128.1:c.2705A>C
  • NM_001371129.1:c.2648A>C
  • NM_001371130.1:c.2657A>C
  • NM_001371131.1:c.2705A>C
  • NM_001371132.1:c.2648A>C
  • NM_001371133.1:c.2657A>C
  • NM_001371134.1:c.2654A>C
  • NM_001371135.1:c.2648A>C
  • NM_001371136.1:c.2657A>C
  • NM_001371137.1:c.1748A>C
  • NM_001371138.1:c.2705A>C
  • NM_001371139.1:c.2648A>C
  • NM_001371140.1:c.2648A>C
  • NM_001371141.1:c.2648A>C
  • NM_001371142.1:c.2360A>C
  • NM_001371143.1:c.2360A>C
  • NM_001371144.1:c.2705A>C
  • NM_001371145.1:c.2648A>C
  • NM_001371146.1:c.2648A>C
  • NM_001371147.1:c.2360A>C
  • NM_001371148.1:c.2387A>C
  • NM_001371149.1:c.2705A>C
  • NM_001371150.1:c.2675A>C
  • NM_001371151.1:c.2657A>C
  • NM_001371152.1:c.2657A>C
  • NM_001371153.1:c.2705A>C
  • NM_001371154.1:c.2648A>C
  • NM_001371155.1:c.2648A>C
  • NM_001371156.1:c.2705A>C
  • NM_001371157.1:c.2657A>C
  • NM_001371158.1:c.2648A>C
  • NM_001371159.1:c.2675A>C
  • NM_001371160.1:c.2687A>C
  • NM_001371161.1:c.2705A>C
  • NM_001371162.1:c.2648A>C
  • NM_001371163.1:c.2648A>C
  • NM_001371164.1:c.2360A>C
  • NM_001371165.1:c.2648A>C
  • NM_001371166.1:c.2648A>C
  • NM_001371167.1:c.2648A>C
  • NM_001371168.1:c.2705A>C
  • NM_001371169.1:c.2705A>C
  • NM_001371170.1:c.2387A>C
  • NM_001371171.1:c.2657A>C
  • NM_001371172.1:c.2648A>C
  • NM_001371173.1:c.2705A>C
  • NM_001371174.1:c.2675A>C
  • NM_001371175.1:c.2657A>C
  • NM_001371176.1:c.2657A>C
  • NM_001371177.1:c.2648A>C
  • NM_001371178.1:c.2657A>C
  • NM_001371179.1:c.2387A>C
  • NM_001371180.1:c.2387A>C
  • NM_001371181.1:c.2648A>C
  • NM_001371182.1:c.2600A>C
  • NM_005010.5:c.2657A>C
  • NP_001032209.1:p.Lys902Thr
  • NP_001180511.1:p.Lys902Thr
  • NP_001180512.1:p.Lys883Thr
  • NP_001180513.1:p.Lys883Thr
  • NP_001358048.1:p.Lys883Thr
  • NP_001358051.1:p.Lys883Thr
  • NP_001358052.1:p.Lys902Thr
  • NP_001358053.1:p.Lys883Thr
  • NP_001358054.1:p.Lys787Thr
  • NP_001358055.1:p.Lys883Thr
  • NP_001358056.1:p.Lys901Thr
  • NP_001358057.1:p.Lys902Thr
  • NP_001358058.1:p.Lys883Thr
  • NP_001358059.1:p.Lys886Thr
  • NP_001358060.1:p.Lys902Thr
  • NP_001358061.1:p.Lys883Thr
  • NP_001358062.1:p.Lys886Thr
  • NP_001358063.1:p.Lys885Thr
  • NP_001358064.1:p.Lys883Thr
  • NP_001358065.1:p.Lys886Thr
  • NP_001358066.1:p.Lys583Thr
  • NP_001358067.1:p.Lys902Thr
  • NP_001358068.1:p.Lys883Thr
  • NP_001358069.1:p.Lys883Thr
  • NP_001358070.1:p.Lys883Thr
  • NP_001358071.1:p.Lys787Thr
  • NP_001358072.1:p.Lys787Thr
  • NP_001358073.1:p.Lys902Thr
  • NP_001358074.1:p.Lys883Thr
  • NP_001358075.1:p.Lys883Thr
  • NP_001358076.1:p.Lys787Thr
  • NP_001358077.1:p.Lys796Thr
  • NP_001358078.1:p.Lys902Thr
  • NP_001358079.1:p.Lys892Thr
  • NP_001358080.1:p.Lys886Thr
  • NP_001358081.1:p.Lys886Thr
  • NP_001358082.1:p.Lys902Thr
  • NP_001358083.1:p.Lys883Thr
  • NP_001358084.1:p.Lys883Thr
  • NP_001358085.1:p.Lys902Thr
  • NP_001358086.1:p.Lys886Thr
  • NP_001358087.1:p.Lys883Thr
  • NP_001358088.1:p.Lys892Thr
  • NP_001358089.1:p.Lys896Thr
  • NP_001358090.1:p.Lys902Thr
  • NP_001358091.1:p.Lys883Thr
  • NP_001358092.1:p.Lys883Thr
  • NP_001358093.1:p.Lys787Thr
  • NP_001358094.1:p.Lys883Thr
  • NP_001358095.1:p.Lys883Thr
  • NP_001358096.1:p.Lys883Thr
  • NP_001358097.1:p.Lys902Thr
  • NP_001358098.1:p.Lys902Thr
  • NP_001358099.1:p.Lys796Thr
  • NP_001358100.1:p.Lys886Thr
  • NP_001358101.1:p.Lys883Thr
  • NP_001358102.1:p.Lys902Thr
  • NP_001358103.1:p.Lys892Thr
  • NP_001358104.1:p.Lys886Thr
  • NP_001358105.1:p.Lys886Thr
  • NP_001358106.1:p.Lys883Thr
  • NP_001358107.1:p.Lys886Thr
  • NP_001358108.1:p.Lys796Thr
  • NP_001358109.1:p.Lys796Thr
  • NP_001358110.1:p.Lys883Thr
  • NP_001358111.1:p.Lys867Thr
  • NP_005001.3:p.Lys886Thr
  • NC_000007.13:g.107820813T>G
  • NM_001037132.2:c.2705A>C
  • NR_163867.1:n.3173A>C
  • NR_163868.1:n.3173A>C
  • NR_163869.1:n.3173A>C
  • NR_163870.1:n.3254A>C
  • NR_163871.1:n.3252A>C
Protein change:
K583T
Links:
dbSNP: rs139634064
NCBI 1000 Genomes Browser:
rs139634064
Molecular consequence:
  • NM_001037132.4:c.2705A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001193582.2:c.2705A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001193583.2:c.2648A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001193584.2:c.2648A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371119.1:c.2648A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371122.1:c.2648A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371123.1:c.2705A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371124.1:c.2648A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371125.1:c.2360A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371126.1:c.2648A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371127.1:c.2702A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371128.1:c.2705A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371129.1:c.2648A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371130.1:c.2657A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371131.1:c.2705A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371132.1:c.2648A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371133.1:c.2657A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371134.1:c.2654A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371135.1:c.2648A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371136.1:c.2657A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371137.1:c.1748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371138.1:c.2705A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371139.1:c.2648A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371140.1:c.2648A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371141.1:c.2648A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371142.1:c.2360A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371143.1:c.2360A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371144.1:c.2705A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371145.1:c.2648A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371146.1:c.2648A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371147.1:c.2360A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371148.1:c.2387A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371149.1:c.2705A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371150.1:c.2675A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371151.1:c.2657A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371152.1:c.2657A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371153.1:c.2705A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371154.1:c.2648A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371155.1:c.2648A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371156.1:c.2705A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371157.1:c.2657A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371158.1:c.2648A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371159.1:c.2675A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371160.1:c.2687A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371161.1:c.2705A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371162.1:c.2648A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371163.1:c.2648A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371164.1:c.2360A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371165.1:c.2648A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371166.1:c.2648A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371167.1:c.2648A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371168.1:c.2705A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371169.1:c.2705A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371170.1:c.2387A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371171.1:c.2657A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371172.1:c.2648A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371173.1:c.2705A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371174.1:c.2675A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371175.1:c.2657A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371176.1:c.2657A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371177.1:c.2648A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371178.1:c.2657A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371179.1:c.2387A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371180.1:c.2387A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371181.1:c.2648A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371182.1:c.2600A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005010.5:c.2657A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_163867.1:n.3173A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_163868.1:n.3173A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_163869.1:n.3173A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_163870.1:n.3254A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_163871.1:n.3252A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003612720Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 6, 2021) 		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, SCV003612720.2

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

Description

The c.2705A>C (p.K902T) alteration is located in exon 22 (coding exon 22) of the NRCAM gene. This alteration results from a A to C substitution at nucleotide position 2705, causing the lysine (K) at amino acid position 902 to be replaced by a threonine (T). 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 12, 2024