NM_170601.5(SIAE):c.380G>A (p.Ser127Asn) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 15, 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:: RCV003664155.2

Allele description [Variation Report for NM_170601.5(SIAE):c.380G>A (p.Ser127Asn)]

NM_170601.5(SIAE):c.380G>A (p.Ser127Asn)

Gene:

SIAE:sialic acid acetylesterase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q24.2

Genomic location:

Preferred name:

NM_170601.5(SIAE):c.380G>A (p.Ser127Asn)

HGVS:

NC_000011.10:g.124660653C>T
NG_028132.1:g.20651G>A
NG_028132.2:g.20650G>A
NM_001199922.2:c.275G>A
NM_170601.5:c.380G>AMANE SELECT
NP_001186851.1:p.Ser92Asn
NP_733746.1:p.Ser127Asn
NC_000011.9:g.124530549C>T

Protein change:

S127N

Molecular consequence:

NM_001199922.2:c.275G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_170601.5:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Campylobacter lanienae strain RM6140, whole genome shotgun sequencing project
gi|1192702361|gb|MJBG00000000.1|MJB 0000

Nucleotide
Homo sapiens CD99 molecule like 2 (CD99L2), RefSeqGene on chromosome X
Homo sapiens CD99 molecule like 2 (CD99L2), RefSeqGene on chromosome X
gi|1543394892|ref|NG_021320.2|

Nucleotide
Homo sapiens CD99 molecule-like 2 isoform 3 (CD99L2) mRNA, partial cds, alternat...
Homo sapiens CD99 molecule-like 2 isoform 3 (CD99L2) mRNA, partial cds, alternatively spliced
gi|957951615|gb|KU178798.1|

Nucleotide
Megacollybia fallax voucher JLF12156 small subunit ribosomal RNA gene, partial s...
Megacollybia fallax voucher JLF12156 small subunit ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequence
gi|2754688526|gb|PP992246.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004378078	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 15, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004378078

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 15, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004378078.1

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with SIAE-related conditions. This variant is present in population databases (no rsID available, gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 127 of the SIAE protein (p.Ser127Asn).

#	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: Sep 29, 2024

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