NM_003599.4(SUPT3H):c.412C>G (p.Gln138Glu) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 13, 2024
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:: RCV004681759.1

Allele description [Variation Report for NM_003599.4(SUPT3H):c.412C>G (p.Gln138Glu)]

NM_003599.4(SUPT3H):c.412C>G (p.Gln138Glu)

Gene:

SUPT3H:SPT3 homolog, SAGA and STAGA complex component [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

Preferred name:

NM_003599.4(SUPT3H):c.412C>G (p.Gln138Glu)

HGVS:

NC_000006.12:g.45003745G>C
NM_001261823.2:c.-45C>G
NM_001350324.2:c.412C>G
NM_001350325.2:c.406C>G
NM_001350326.2:c.349C>G
NM_001350327.2:c.154C>G
NM_001350329.2:c.412C>G
NM_003599.4:c.412C>GMANE SELECT
NM_181356.3:c.445C>G
NP_001337253.1:p.Gln138Glu
NP_001337254.1:p.Gln136Glu
NP_001337255.1:p.Gln117Glu
NP_001337256.1:p.Gln52Glu
NP_001337258.1:p.Gln138Glu
NP_003590.1:p.Gln138Glu
NP_852001.1:p.Gln149Glu
NC_000006.11:g.44971482G>C
NM_181356.1:c.445C>G
NR_146632.2:n.579C>G
NR_146633.1:n.571C>G
NR_146634.2:n.565C>G
NR_146635.2:n.571C>G

Protein change:

Q117E

Molecular consequence:

NM_001261823.2:c.-45C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001350324.2:c.412C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001350325.2:c.406C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001350326.2:c.349C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001350327.2:c.154C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001350329.2:c.412C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003599.4:c.412C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_181356.3:c.445C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_146632.2:n.579C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146633.1:n.571C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146634.2:n.565C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146635.2:n.571C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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unnamed protein product (mitochondrion) [Arabidopsis thaliana]
unnamed protein product (mitochondrion) [Arabidopsis thaliana]
gi|1785742|emb|CAA69826.1|

Protein
bifunctional acetaldehyde-CoA/alcohol dehydrogenase [Candidatus Desulforudis aud...
bifunctional acetaldehyde-CoA/alcohol dehydrogenase [Candidatus Desulforudis audaxviator MP104C]
gi|169832183|gnl|REF_jgi|Daud_2043| P_001718165.1|

Protein
Gallus gallus isolate bGalGal1 chromosome 15, alternate assembly bGalGal1.pat.wh...
Gallus gallus isolate bGalGal1 chromosome 15, alternate assembly bGalGal1.pat.whiteleghornlayer.GRCg7w, whole genome shotgun sequence
gi|1969672632|gnl|ASM:GCF_016700225 ef|NC_052587.1||gpp|GPC_000009498.1||gnl|NCBI_GENOMES|98573

Nucleotide
ComF family protein [Streptococcus pneumoniae]
ComF family protein [Streptococcus pneumoniae]
gi|446572628|ref|WP_000649974.1|

Protein
EF-P 5-aminopentanol modification-associated protein YfmF [Streptococcus pneumon...
EF-P 5-aminopentanol modification-associated protein YfmF [Streptococcus pneumoniae]
gi|446346414|ref|WP_000424269.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005166245	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 13, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005166245

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 13, 2024)

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, SCV005166245.1

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

Description

The c.445C>G (p.Q149E) alteration is located in exon 8 (coding exon 6) of the SUPT3H gene. This alteration results from a C to G substitution at nucleotide position 445, causing the glutamine (Q) at amino acid position 149 to be replaced by a glutamic acid (E). 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: Aug 11, 2024

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