NM_001382548.1(TCERG1):c.1814G>A (p.Ser605Asn) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 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:: RCV004229569.1

Allele description [Variation Report for NM_001382548.1(TCERG1):c.1814G>A (p.Ser605Asn)]

NM_001382548.1(TCERG1):c.1814G>A (p.Ser605Asn)

Gene:

TCERG1:transcription elongation regulator 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q32

Genomic location:

Preferred name:

NM_001382548.1(TCERG1):c.1814G>A (p.Ser605Asn)

HGVS:

NC_000005.10:g.146479906G>A
NM_001040006.2:c.1751G>A
NM_001382548.1:c.1814G>AMANE SELECT
NM_001400077.1:c.1751G>A
NM_001400082.1:c.1757G>A
NM_001400083.1:c.1736G>A
NM_001400084.1:c.1730G>A
NM_001400085.1:c.1667G>A
NM_001400092.1:c.1691G>A
NM_001400093.1:c.1667G>A
NM_001400094.1:c.1751G>A
NM_001400095.1:c.1661G>A
NM_001400096.1:c.1577G>A
NM_001400097.1:c.1751G>A
NM_001400098.1:c.1547G>A
NM_001400099.1:c.1667G>A
NM_006706.4:c.1814G>A
NP_001035095.1:p.Ser584Asn
NP_001369477.1:p.Ser605Asn
NP_001387006.1:p.Ser584Asn
NP_001387011.1:p.Ser586Asn
NP_001387012.1:p.Ser579Asn
NP_001387013.1:p.Ser577Asn
NP_001387014.1:p.Ser556Asn
NP_001387021.1:p.Ser564Asn
NP_001387022.1:p.Ser556Asn
NP_001387023.1:p.Ser584Asn
NP_001387024.1:p.Ser554Asn
NP_001387025.1:p.Ser526Asn
NP_001387026.1:p.Ser584Asn
NP_001387027.1:p.Ser516Asn
NP_001387028.1:p.Ser556Asn
NP_006697.2:p.Ser605Asn
NC_000005.9:g.145859469G>A
NM_006706.3:c.1814G>A
NR_174389.1:n.1831G>A
NR_174390.1:n.1768G>A
NR_174391.1:n.1768G>A
NR_174406.1:n.1771G>A
NR_174407.1:n.1913G>A
NR_174408.1:n.1705G>A
NR_174409.1:n.1768G>A
NR_174410.1:n.1768G>A
NR_174411.1:n.1768G>A
NR_174412.1:n.1831G>A
NR_174413.1:n.1768G>A
NR_174414.1:n.1858G>A
NR_174415.1:n.1847G>A
NR_174416.1:n.1768G>A
NR_174417.1:n.1847G>A
NR_174418.1:n.1768G>A
NR_174419.1:n.1768G>A
NR_174420.1:n.1768G>A
NR_174421.1:n.1768G>A
NR_174422.1:n.1768G>A
NR_174423.1:n.1831G>A
NR_174424.1:n.1831G>A
NR_174425.1:n.1768G>A
NR_174426.1:n.1831G>A
NR_174427.1:n.1768G>A
NR_174428.1:n.1768G>A
NR_174429.1:n.1768G>A
NR_174430.1:n.1831G>A
NR_174431.1:n.1768G>A
NR_174432.1:n.1768G>A
NR_174433.1:n.1831G>A
NR_174434.1:n.1831G>A
NR_174435.1:n.1768G>A
NR_174436.1:n.1768G>A
NR_174437.1:n.1831G>A
NR_174438.1:n.1768G>A
NR_174439.1:n.1684G>A
NR_174440.1:n.1831G>A
NR_174441.1:n.1768G>A
NR_174442.1:n.1768G>A
NR_174443.1:n.1768G>A
NR_174444.1:n.1831G>A
NR_174445.1:n.1831G>A
NR_174446.1:n.1768G>A
NR_174447.1:n.1768G>A
NR_174448.1:n.1831G>A
NR_174449.1:n.1768G>A
NR_174450.1:n.1831G>A
NR_174451.1:n.1847G>A
NR_174452.1:n.1768G>A
NR_174453.1:n.1768G>A
NR_174454.1:n.1831G>A

Protein change:

S516N

Molecular consequence:

NM_001040006.2:c.1751G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382548.1:c.1814G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001400077.1:c.1751G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001400082.1:c.1757G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001400083.1:c.1736G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001400084.1:c.1730G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001400085.1:c.1667G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001400092.1:c.1691G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001400093.1:c.1667G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001400094.1:c.1751G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001400095.1:c.1661G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001400096.1:c.1577G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001400097.1:c.1751G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001400098.1:c.1547G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001400099.1:c.1667G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_006706.4:c.1814G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_174389.1:n.1831G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174390.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174391.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174406.1:n.1771G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174407.1:n.1913G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174408.1:n.1705G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174409.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174410.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174411.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174412.1:n.1831G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174413.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174414.1:n.1858G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174415.1:n.1847G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174416.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174417.1:n.1847G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174418.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174419.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174420.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174421.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174422.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174423.1:n.1831G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174424.1:n.1831G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174425.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174426.1:n.1831G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174427.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174428.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174429.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174430.1:n.1831G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174431.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174432.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174433.1:n.1831G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174434.1:n.1831G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174435.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174436.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174437.1:n.1831G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174438.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174439.1:n.1684G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174440.1:n.1831G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174441.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174442.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174443.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174444.1:n.1831G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174445.1:n.1831G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174446.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174447.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174448.1:n.1831G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174449.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174450.1:n.1831G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174451.1:n.1847G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174452.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174453.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174454.1:n.1831G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003729868	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 10, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003729868

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 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, SCV003729868.2

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

Description

The c.1814G>A (p.S605N) alteration is located in exon 11 (coding exon 11) of the TCERG1 gene. This alteration results from a G to A substitution at nucleotide position 1814, causing the serine (S) at amino acid position 605 to be replaced by an asparagine (N). 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: Oct 26, 2024

ClinVar

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