NM_001128205.2(SULF1):c.554A>C (p.Asp185Ala) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 22, 2023
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:: RCV003837771.2

Allele description [Variation Report for NM_001128205.2(SULF1):c.554A>C (p.Asp185Ala)]

NM_001128205.2(SULF1):c.554A>C (p.Asp185Ala)

Gene:

SULF1:sulfatase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q13.2

Genomic location:

Preferred name:

NM_001128205.2(SULF1):c.554A>C (p.Asp185Ala)

HGVS:

NC_000008.11:g.69586498A>C
NG_042849.1:g.124875A>C
NM_001128204.2:c.554A>C
NM_001128205.2:c.554A>CMANE SELECT
NM_001128206.2:c.554A>C
NM_001412828.1:c.554A>C
NM_001412829.1:c.554A>C
NM_001412830.1:c.554A>C
NM_001412831.1:c.554A>C
NM_001412832.1:c.554A>C
NM_001412833.1:c.554A>C
NM_001412834.1:c.554A>C
NM_001412835.1:c.554A>C
NM_001412836.1:c.554A>C
NM_001412837.1:c.554A>C
NM_001412838.1:c.554A>C
NM_001412839.1:c.554A>C
NM_001412840.1:c.554A>C
NM_001412841.1:c.368A>C
NM_001412842.1:c.368A>C
NM_001412843.1:c.554A>C
NM_001412844.1:c.28A>C
NM_001412845.1:c.28A>C
NM_001412846.1:c.-1148A>C
NM_001412847.1:c.554A>C
NM_001412848.1:c.554A>C
NM_001412849.1:c.554A>C
NM_001412850.1:c.554A>C
NM_001412851.1:c.554A>C
NM_015170.3:c.554A>C
NP_001121676.1:p.Asp185Ala
NP_001121677.1:p.Asp185Ala
NP_001121678.1:p.Asp185Ala
NP_001399757.1:p.Asp185Ala
NP_001399758.1:p.Asp185Ala
NP_001399759.1:p.Asp185Ala
NP_001399760.1:p.Asp185Ala
NP_001399761.1:p.Asp185Ala
NP_001399762.1:p.Asp185Ala
NP_001399763.1:p.Asp185Ala
NP_001399764.1:p.Asp185Ala
NP_001399765.1:p.Asp185Ala
NP_001399766.1:p.Asp185Ala
NP_001399767.1:p.Asp185Ala
NP_001399768.1:p.Asp185Ala
NP_001399769.1:p.Asp185Ala
NP_001399770.1:p.Asp123Ala
NP_001399771.1:p.Asp123Ala
NP_001399772.1:p.Asp185Ala
NP_001399773.1:p.Ile10Leu
NP_001399774.1:p.Ile10Leu
NP_001399776.1:p.Asp185Ala
NP_001399777.1:p.Asp185Ala
NP_001399778.1:p.Asp185Ala
NP_001399779.1:p.Asp185Ala
NP_001399780.1:p.Asp185Ala
NP_055985.2:p.Asp185Ala
NC_000008.10:g.70498733A>C
NR_156414.2:n.1061A>C
NR_156415.2:n.1223A>C
NR_182050.1:n.952A>C
NR_182051.1:n.1114A>C
NR_182053.1:n.1114A>C
NR_182055.1:n.692A>C

Protein change:

D123A

Molecular consequence:

NM_001412846.1:c.-1148A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001128204.2:c.554A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001128205.2:c.554A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001128206.2:c.554A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001412828.1:c.554A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001412829.1:c.554A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001412830.1:c.554A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001412831.1:c.554A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001412832.1:c.554A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001412833.1:c.554A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001412834.1:c.554A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001412835.1:c.554A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001412836.1:c.554A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001412837.1:c.554A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001412838.1:c.554A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001412839.1:c.554A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001412840.1:c.554A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001412841.1:c.368A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001412842.1:c.368A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001412843.1:c.554A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001412844.1:c.28A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001412845.1:c.28A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001412847.1:c.554A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001412848.1:c.554A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001412849.1:c.554A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001412850.1:c.554A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001412851.1:c.554A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_015170.3:c.554A>C - missense variant - [Sequence Ontology: SO:0001583]
NR_156414.2:n.1061A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_156415.2:n.1223A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_182050.1:n.952A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_182051.1:n.1114A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_182053.1:n.1114A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_182055.1:n.692A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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PsbA, partial (chloroplast) [Navarretia intertexta]
PsbA, partial (chloroplast) [Navarretia intertexta]
gi|399157732|gb|AFP28681.1|

Protein
MADS-box transcription factor PISTILLATA-like protein, partial [Navarretia inter...
MADS-box transcription factor PISTILLATA-like protein, partial [Navarretia intertexta]
gi|381212666|gb|AFF60749.1|

Protein
cytochrome c oxidase subunit I (mitochondrion) [Pristipomoides multidens]
cytochrome c oxidase subunit I (mitochondrion) [Pristipomoides multidens]
gi|533207002|ref|YP_008475323.1|

Protein
Homo sapiens cDNA FLJ76354 complete cds
Homo sapiens cDNA FLJ76354 complete cds
gi|158256045|dbj|AK291305.1|

Nucleotide
Homo sapiens zinc finger protein 248, mRNA (cDNA clone IMAGE:5560819), complete ...
Homo sapiens zinc finger protein 248, mRNA (cDNA clone IMAGE:5560819), complete cds
gi|84570134|gb|BC110869.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004632559	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 22, 2023)	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

SCV004632559

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 22, 2023)

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, SCV004632559.1

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

Description

This sequence change replaces aspartic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 185 of the SULF1 protein (p.Asp185Ala). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SULF1-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.

#	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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