NM_001377540.1(SLMAP):c.1958G>A (p.Ser653Asn) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 30, 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:: RCV004153949.1

Allele description [Variation Report for NM_001377540.1(SLMAP):c.1958G>A (p.Ser653Asn)]

NM_001377540.1(SLMAP):c.1958G>A (p.Ser653Asn)

Gene:

SLMAP:sarcolemma associated protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p14.3

Genomic location:

Preferred name:

NM_001377540.1(SLMAP):c.1958G>A (p.Ser653Asn)

HGVS:

NC_000003.12:g.57912639G>A
NG_042789.1:g.160384G>A
NM_001304420.3:c.1907G>A
NM_001304421.2:c.1793G>A
NM_001304422.3:c.509G>A
NM_001304423.3:c.311G>A
NM_001311178.2:c.509G>A
NM_001311179.2:c.386G>A
NM_001377538.1:c.1979G>A
NM_001377539.1:c.1958G>A
NM_001377540.1:c.1958G>AMANE SELECT
NM_001377541.1:c.1907G>A
NM_001377542.1:c.1907G>A
NM_001377545.1:c.1895G>A
NM_001377549.1:c.1856G>A
NM_001377551.1:c.1844G>A
NM_001377552.1:c.1844G>A
NM_001377555.1:c.1835G>A
NM_001377557.1:c.1793G>A
NM_001377559.1:c.1793G>A
NM_001377562.1:c.1784G>A
NM_001377921.1:c.1784G>A
NM_001377922.1:c.1772G>A
NM_001377923.1:c.1733G>A
NM_001377924.1:c.1721G>A
NM_001377925.1:c.1670G>A
NM_001377926.1:c.386G>A
NM_001377927.1:c.386G>A
NM_001377928.1:c.386G>A
NM_007159.5:c.1856G>A
NP_001291349.1:p.Ser636Asn
NP_001291350.1:p.Ser598Asn
NP_001291351.1:p.Ser170Asn
NP_001291352.1:p.Ser104Asn
NP_001298107.1:p.Ser170Asn
NP_001298108.1:p.Ser129Asn
NP_001364467.1:p.Ser660Asn
NP_001364468.1:p.Ser653Asn
NP_001364469.1:p.Ser653Asn
NP_001364470.1:p.Ser636Asn
NP_001364471.1:p.Ser636Asn
NP_001364474.1:p.Ser632Asn
NP_001364478.1:p.Ser619Asn
NP_001364480.1:p.Ser615Asn
NP_001364481.1:p.Ser615Asn
NP_001364484.1:p.Ser612Asn
NP_001364486.1:p.Ser598Asn
NP_001364488.1:p.Ser598Asn
NP_001364491.1:p.Ser595Asn
NP_001364850.1:p.Ser595Asn
NP_001364851.1:p.Ser591Asn
NP_001364852.1:p.Ser578Asn
NP_001364853.1:p.Ser574Asn
NP_001364854.1:p.Ser557Asn
NP_001364855.1:p.Ser129Asn
NP_001364856.1:p.Ser129Asn
NP_001364857.1:p.Ser129Asn
NP_009090.2:p.Ser619Asn
NC_000003.11:g.57898366G>A
NM_007159.2:c.1856G>A
NR_165328.1:n.3002G>A

Protein change:

S104N

Molecular consequence:

NM_001304420.3:c.1907G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001304421.2:c.1793G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001304422.3:c.509G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001304423.3:c.311G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001311178.2:c.509G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001311179.2:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377538.1:c.1979G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377539.1:c.1958G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377540.1:c.1958G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377541.1:c.1907G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377542.1:c.1907G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377545.1:c.1895G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377549.1:c.1856G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377551.1:c.1844G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377552.1:c.1844G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377555.1:c.1835G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377557.1:c.1793G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377559.1:c.1793G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377562.1:c.1784G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377921.1:c.1784G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377922.1:c.1772G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377923.1:c.1733G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377924.1:c.1721G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377925.1:c.1670G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377926.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377927.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377928.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007159.5:c.1856G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_165328.1:n.3002G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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gi|2033031175|gb|MW266677.1|

Nucleotide
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gi|1381348224|gb|MG231498.1|

Nucleotide
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Cylindrobasidium laeve voucher CLZhao 767 18S ribosomal RNA gene, internal transcribed spacer 1, 5.8S ribosomal RNA gene, internal transcribed spacer 2, and 28S ribosomal RNA gene, region
gi|1381348223|gb|MG231497.1|

Nucleotide
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Rhagastis castor jordani isolate 2023JW6 cytochrome c oxidase subunit I (COX1) gene, partial cds; mitochondrial
gi|2689244824|gb|PP410214.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003627696	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 30, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003627696

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 30, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003627696.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.1856G>A (p.S619N) alteration is located in exon 17 (coding exon 17) of the SLMAP gene. This alteration results from a G to A substitution at nucleotide position 1856, causing the serine (S) at amino acid position 619 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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