NM_052961.4(SLC26A8):c.1015A>T (p.Ile339Phe) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 21, 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:: RCV004300900.1

Allele description [Variation Report for NM_052961.4(SLC26A8):c.1015A>T (p.Ile339Phe)]

NM_052961.4(SLC26A8):c.1015A>T (p.Ile339Phe)

Gene:

SLC26A8:solute carrier family 26 member 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.31

Genomic location:

Preferred name:

NM_052961.4(SLC26A8):c.1015A>T (p.Ile339Phe)

HGVS:

NC_000006.12:g.35982131T>A
NG_033897.1:g.47506A>T
NM_001193476.2:c.1015A>T
NM_052961.4:c.1015A>TMANE SELECT
NM_138718.3:c.700A>T
NP_001180405.1:p.Ile339Phe
NP_443193.1:p.Ile339Phe
NP_619732.2:p.Ile234Phe
NC_000006.11:g.35949908T>A
NM_052961.3:c.1015A>T

Protein change:

I234F

Molecular consequence:

NM_001193476.2:c.1015A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_052961.4:c.1015A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_138718.3:c.700A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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UNVERIFIED: Mycobacterium simiae strain 184 RpoB-like gene, partial sequence
UNVERIFIED: Mycobacterium simiae strain 184 RpoB-like gene, partial sequence
gi|2325356752|gb|OP598576.1|

Nucleotide
Miniopterus natalensis voucher ROM64656 cytochrome b (cytb) gene, partial cds; m...
Miniopterus natalensis voucher ROM64656 cytochrome b (cytb) gene, partial cds; mitochondrial
gi|564291493|gb|KF709547.1|

Nucleotide
cobalamin trafficking protein CblD [Rhinolophus ferrumequinum]
cobalamin trafficking protein CblD [Rhinolophus ferrumequinum]
gi|1823876287|ref|XP_032968730.1|

Protein
Medicosma riparia voucher NSW 812557 18S ribosomal RNA gene, partial sequence; i...
Medicosma riparia voucher NSW 812557 18S ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and 26S ribosomal RNA gene, partial sequence
gi|1877790054|gb|MN082883.1|

Nucleotide
fut7 [Tachysurus fulvidraco]
fut7 [Tachysurus fulvidraco]
Gene ID:113640042

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003964490	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 21, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003964490

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 21, 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, SCV003964490.2

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

Description

The c.1015A>T (p.I339F) alteration is located in exon 8 (coding exon 7) of the SLC26A8 gene. This alteration results from a A to T substitution at nucleotide position 1015, causing the isoleucine (I) at amino acid position 339 to be replaced by a phenylalanine (F). 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 3, 2024

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