NM_005839.4(SRRM1):c.2021G>A (p.Arg674Gln) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 10, 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:: RCV004460522.1

Allele description [Variation Report for NM_005839.4(SRRM1):c.2021G>A (p.Arg674Gln)]

NM_005839.4(SRRM1):c.2021G>A (p.Arg674Gln)

Gene:

SRRM1:serine and arginine repetitive matrix 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.11

Genomic location:

Preferred name:

NM_005839.4(SRRM1):c.2021G>A (p.Arg674Gln)

HGVS:

NC_000001.11:g.24669404G>A
NM_001303448.2:c.2057G>A
NM_001303449.1:c.1940G>A
NM_001366565.1:c.1772G>A
NM_001366566.1:c.1772G>A
NM_001366567.1:c.1766G>A
NM_001366568.1:c.1814G>A
NM_001366569.1:c.2060G>A
NM_001366570.1:c.1805G>A
NM_001366571.1:c.1814G>A
NM_001366572.1:c.1769G>A
NM_001366573.1:c.1808G>A
NM_001366575.1:c.2054G>A
NM_001366576.1:c.1970G>A
NM_001366577.1:c.1973G>A
NM_001366578.1:c.1721G>A
NM_001366581.1:c.1967G>A
NM_001366582.1:c.2018G>A
NM_001366584.1:c.1766G>A
NM_001366585.1:c.1811G>A
NM_001366586.1:c.1682G>A
NM_001366587.1:c.1724G>A
NM_001366588.1:c.2015G>A
NM_001366589.1:c.2012G>A
NM_001366590.1:c.1808G>A
NM_001366591.1:c.1724G>A
NM_001366592.1:c.1925G>A
NM_001366593.1:c.1811G>A
NM_001366594.1:c.1721G>A
NM_001366595.1:c.2063G>A
NM_001366596.1:c.1856G>A
NM_001366597.1:c.1946G>A
NM_001366598.1:c.1769G>A
NM_001366599.1:c.1766G>A
NM_001366600.1:c.1814G>A
NM_005839.4:c.2021G>AMANE SELECT
NP_001290377.1:p.Arg686Gln
NP_001290378.1:p.Arg647Gln
NP_001353494.1:p.Arg591Gln
NP_001353495.1:p.Arg591Gln
NP_001353496.1:p.Arg589Gln
NP_001353497.1:p.Arg605Gln
NP_001353498.1:p.Arg687Gln
NP_001353499.1:p.Arg602Gln
NP_001353500.1:p.Arg605Gln
NP_001353501.1:p.Arg590Gln
NP_001353502.1:p.Arg603Gln
NP_001353504.1:p.Arg685Gln
NP_001353505.1:p.Arg657Gln
NP_001353506.1:p.Arg658Gln
NP_001353507.1:p.Arg574Gln
NP_001353510.1:p.Arg656Gln
NP_001353511.1:p.Arg673Gln
NP_001353513.1:p.Arg589Gln
NP_001353514.1:p.Arg604Gln
NP_001353515.1:p.Arg561Gln
NP_001353516.1:p.Arg575Gln
NP_001353517.1:p.Arg672Gln
NP_001353518.1:p.Arg671Gln
NP_001353519.1:p.Arg603Gln
NP_001353520.1:p.Arg575Gln
NP_001353521.1:p.Arg642Gln
NP_001353522.1:p.Arg604Gln
NP_001353523.1:p.Arg574Gln
NP_001353524.1:p.Arg688Gln
NP_001353525.1:p.Arg619Gln
NP_001353526.1:p.Arg649Gln
NP_001353527.1:p.Arg590Gln
NP_001353528.1:p.Arg589Gln
NP_001353529.1:p.Arg605Gln
NP_005830.2:p.Arg674Gln
NC_000001.10:g.24995895G>A
NM_005839.3:c.2021G>A
NR_159378.1:n.4195G>A
NR_159379.1:n.3864G>A
NR_159380.1:n.2126G>A
NR_159382.1:n.2084G>A
NR_159383.1:n.2257G>A
NR_159384.1:n.2036G>A
NR_159385.1:n.3810G>A
NR_159386.1:n.2069G>A
NR_159387.1:n.2256G>A
NR_159388.1:n.3901G>A
NR_159389.1:n.3858G>A
NR_159390.1:n.2135G>A
NR_159391.1:n.3906G>A

Protein change:

R561Q

Molecular consequence:

NM_001303448.2:c.2057G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001303449.1:c.1940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366565.1:c.1772G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366566.1:c.1772G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366567.1:c.1766G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366568.1:c.1814G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366569.1:c.2060G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366570.1:c.1805G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366571.1:c.1814G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366572.1:c.1769G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366573.1:c.1808G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366575.1:c.2054G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366576.1:c.1970G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366577.1:c.1973G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366578.1:c.1721G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366581.1:c.1967G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366582.1:c.2018G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366584.1:c.1766G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366585.1:c.1811G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366586.1:c.1682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366587.1:c.1724G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366588.1:c.2015G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366589.1:c.2012G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366590.1:c.1808G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366591.1:c.1724G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366592.1:c.1925G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366593.1:c.1811G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366594.1:c.1721G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366595.1:c.2063G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366596.1:c.1856G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366597.1:c.1946G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366598.1:c.1769G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366599.1:c.1766G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366600.1:c.1814G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005839.4:c.2021G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_159378.1:n.4195G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_159379.1:n.3864G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_159380.1:n.2126G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_159382.1:n.2084G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_159383.1:n.2257G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_159384.1:n.2036G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_159385.1:n.3810G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_159386.1:n.2069G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_159387.1:n.2256G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_159388.1:n.3901G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_159389.1:n.3858G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_159390.1:n.2135G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_159391.1:n.3906G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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gi|537099789|gb|KF442647.1|

Nucleotide
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PREDICTED: Homo sapiens SMG6 nonsense mediated mRNA decay factor (SMG6), transcript variant X7, mRNA
gi|2462554232|ref|XM_054315613.1|

Nucleotide
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Chain BV, Ribosomal Protein L23
Chain BV, Ribosomal Protein L23
gi|1995665845|pdb|4V61|BV

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004958523	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 10, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004958523

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 10, 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, SCV004958523.1

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

Description

The c.2021G>A (p.R674Q) alteration is located in exon 14 (coding exon 14) of the SRRM1 gene. This alteration results from a G to A substitution at nucleotide position 2021, causing the arginine (R) at amino acid position 674 to be replaced by a glutamine (Q). 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: May 7, 2024

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