NM_001128205.2(SULF1):c.1259G>A (p.Arg420His) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 18, 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:: RCV004284302.1

Allele description [Variation Report for NM_001128205.2(SULF1):c.1259G>A (p.Arg420His)]

NM_001128205.2(SULF1):c.1259G>A (p.Arg420His)

Gene:

SULF1:sulfatase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q13.3

Genomic location:

Preferred name:

NM_001128205.2(SULF1):c.1259G>A (p.Arg420His)

HGVS:

NC_000008.11:g.69604814G>A
NG_042849.1:g.143191G>A
NM_001128204.2:c.1259G>A
NM_001128205.2:c.1259G>AMANE SELECT
NM_001128206.2:c.1259G>A
NM_001412828.1:c.1259G>A
NM_001412829.1:c.1259G>A
NM_001412830.1:c.1259G>A
NM_001412831.1:c.1259G>A
NM_001412832.1:c.1130G>A
NM_001412833.1:c.1259G>A
NM_001412834.1:c.1259G>A
NM_001412835.1:c.1259G>A
NM_001412836.1:c.1202G>A
NM_001412837.1:c.1202G>A
NM_001412838.1:c.1130G>A
NM_001412839.1:c.1130G>A
NM_001412840.1:c.1130G>A
NM_001412841.1:c.1073G>A
NM_001412842.1:c.1073G>A
NM_001412843.1:c.1259G>A
NM_001412844.1:c.659G>A
NM_001412845.1:c.659G>A
NM_001412846.1:c.-528-5G>A
NM_001412850.1:c.1259G>A
NM_001412851.1:c.1259G>A
NM_015170.3:c.1259G>A
NP_001121676.1:p.Arg420His
NP_001121677.1:p.Arg420His
NP_001121678.1:p.Arg420His
NP_001399757.1:p.Arg420His
NP_001399758.1:p.Arg420His
NP_001399759.1:p.Arg420His
NP_001399760.1:p.Arg420His
NP_001399761.1:p.Arg377His
NP_001399762.1:p.Arg420His
NP_001399763.1:p.Arg420His
NP_001399764.1:p.Arg420His
NP_001399765.1:p.Arg401His
NP_001399766.1:p.Arg401His
NP_001399767.1:p.Arg377His
NP_001399768.1:p.Arg377His
NP_001399769.1:p.Arg377His
NP_001399770.1:p.Arg358His
NP_001399771.1:p.Arg358His
NP_001399772.1:p.Arg420His
NP_001399773.1:p.Arg220His
NP_001399774.1:p.Arg220His
NP_001399779.1:p.Arg420His
NP_001399780.1:p.Arg420His
NP_055985.2:p.Arg420His
NC_000008.10:g.70517049G>A
NM_001128205.1:c.1259G>A
NR_132437.1:n.609G>A
NR_156414.2:n.1766G>A
NR_156415.2:n.1928G>A
NR_182050.1:n.1657G>A
NR_182051.1:n.1819G>A
NR_182053.1:n.1812G>A
NR_182055.1:n.1397G>A

Protein change:

R220H

Molecular consequence:

NM_001412846.1:c.-528-5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001128204.2:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001128205.2:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001128206.2:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412828.1:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412829.1:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412830.1:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412831.1:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412832.1:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412833.1:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412834.1:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412835.1:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412836.1:c.1202G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412837.1:c.1202G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412838.1:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412839.1:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412840.1:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412841.1:c.1073G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412842.1:c.1073G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412843.1:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412844.1:c.659G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412845.1:c.659G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412850.1:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412851.1:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_015170.3:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_132437.1:n.609G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_156414.2:n.1766G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_156415.2:n.1928G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_182050.1:n.1657G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_182051.1:n.1819G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_182053.1:n.1812G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_182055.1:n.1397G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Navarretia willamettensis voucher BRY:05-208 tRNA-Ser gene, partial sequence; tr...
Navarretia willamettensis voucher BRY:05-208 tRNA-Ser gene, partial sequence; trnS-trnG intergenic spacer, complete sequence; and tRNA-Gly gene, partial sequence; chloroplast
gi|381212605|gb|HQ911986.1|

Nucleotide
MADS-box transcription factor PISTILLATA-like protein, partial [Navarretia inter...
MADS-box transcription factor PISTILLATA-like protein, partial [Navarretia intertexta]
gi|531032417|gb|AGT56002.1|

Protein
Homo sapiens RNA binding motif protein 42, mRNA (cDNA clone MGC:35002 IMAGE:5163...
Homo sapiens RNA binding motif protein 42, mRNA (cDNA clone MGC:35002 IMAGE:5163682), complete cds
gi|21594921|gb|BC031682.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003944322	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 18, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003944322

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 18, 2023)

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, SCV003944322.2

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

Description

The c.1259G>A (p.R420H) alteration is located in exon 13 (coding exon 9) of the SULF1 gene. This alteration results from a G to A substitution at nucleotide position 1259, causing the arginine (R) at amino acid position 420 to be replaced by a histidine (H). 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 10, 2024

ClinVar

Relating variation to medicine