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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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005166245Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 13, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV005166245.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 11, 2024